Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.931400C= | CA1433026949 | GAK | c.145+643G= (n.145+643G=) n.178+643G= c.117+671G= (n.117+671G=) c.-89+643G= (n.-89+643G=) c.-385+643G= (n.-385+643G=) | |
4 | g.931400C>G | CA1433026950 | GAK | c.145+643G>C (n.145+643G>C) n.178+643G>C c.117+671G>C (n.117+671G>C) c.-89+643G>C (n.-89+643G>C) c.-385+643G>C (n.-385+643G>C) | dbSNP |
4 | g.931400C>T | CA91135408 | GAK | c.145+643G>A (n.145+643G>A) n.178+643G>A c.117+671G>A (n.117+671G>A) c.-89+643G>A (n.-89+643G>A) c.-385+643G>A (n.-385+643G>A) | dbSNP |
4 | g.931402A= | CA1433026951 | GAK | c.145+641T= (n.145+641T=) n.178+641T= c.117+669T= (n.117+669T=) c.-89+641T= (n.-89+641T=) c.-385+641T= (n.-385+641T=) | |
4 | g.931402A>G | CA91135416 | GAK | c.145+641T>C (n.145+641T>C) n.178+641T>C c.117+669T>C (n.117+669T>C) c.-89+641T>C (n.-89+641T>C) c.-385+641T>C (n.-385+641T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931402A>T | CA2704728174 | GAK | c.145+641T>A (n.145+641T>A) n.178+641T>A c.117+669T>A (n.117+669T>A) c.-89+641T>A (n.-89+641T>A) c.-385+641T>A (n.-385+641T>A) | dbSNP |
4 | g.931403G>C | CA800080241 | GAK | c.145+640C>G (n.145+640C>G) n.178+640C>G c.117+668C>G (n.117+668C>G) c.-89+640C>G (n.-89+640C>G) c.-385+640C>G (n.-385+640C>G) | dbSNP |
4 | g.931403G= | CA1433026952 | GAK | c.145+640C= (n.145+640C=) n.178+640C= c.117+668C= (n.117+668C=) c.-89+640C= (n.-89+640C=) c.-385+640C= (n.-385+640C=) | |
4 | g.931404T>C | CA800080250 | GAK | c.145+639A>G (n.145+639A>G) n.178+639A>G c.117+667A>G (n.117+667A>G) c.-89+639A>G (n.-89+639A>G) c.-385+639A>G (n.-385+639A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931404T= | CA1433026953 | GAK | c.145+639A= (n.145+639A=) n.178+639A= c.117+667A= (n.117+667A=) c.-89+639A= (n.-89+639A=) c.-385+639A= (n.-385+639A=) | |
4 | g.931405C>A | CA1433026955 | GAK | c.145+638G>T (n.145+638G>T) n.178+638G>T c.117+666G>T (n.117+666G>T) c.-89+638G>T (n.-89+638G>T) c.-385+638G>T (n.-385+638G>T) | dbSNP |
4 | g.931405C= | CA1433026954 | GAK | c.145+638G= (n.145+638G=) n.178+638G= c.117+666G= (n.117+666G=) c.-89+638G= (n.-89+638G=) c.-385+638G= (n.-385+638G=) | |
4 | g.931406T>C | CA1058438876 | GAK | c.145+637A>G (n.145+637A>G) n.178+637A>G c.117+665A>G (n.117+665A>G) c.-89+637A>G (n.-89+637A>G) c.-385+637A>G (n.-385+637A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931406T= | CA1433026956 | GAK | c.145+637A= (n.145+637A=) n.178+637A= c.117+665A= (n.117+665A=) c.-89+637A= (n.-89+637A=) c.-385+637A= (n.-385+637A=) | |
4 | g.931407A= | CA1433026957 | GAK | c.145+636T= (n.145+636T=) n.178+636T= c.117+664T= (n.117+664T=) c.-89+636T= (n.-89+636T=) c.-385+636T= (n.-385+636T=) | |
4 | g.931407A>C | CA1058438877 | GAK | c.145+636T>G (n.145+636T>G) n.178+636T>G c.117+664T>G (n.117+664T>G) c.-89+636T>G (n.-89+636T>G) c.-385+636T>G (n.-385+636T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931408C= | CA1433026958 | GAK | c.145+635G= (n.145+635G=) n.178+635G= c.117+663G= (n.117+663G=) c.-89+635G= (n.-89+635G=) c.-385+635G= (n.-385+635G=) | |
4 | g.931408C>T | CA1058438878 | GAK | c.145+635G>A (n.145+635G>A) n.178+635G>A c.117+663G>A (n.117+663G>A) c.-89+635G>A (n.-89+635G>A) c.-385+635G>A (n.-385+635G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931409C>A | CA1433026960 | GAK | c.145+634G>T (n.145+634G>T) n.178+634G>T c.117+662G>T (n.117+662G>T) c.-89+634G>T (n.-89+634G>T) c.-385+634G>T (n.-385+634G>T) | dbSNP |
4 | g.931409C= | CA1433026959 | GAK | c.145+634G= (n.145+634G=) n.178+634G= c.117+662G= (n.117+662G=) c.-89+634G= (n.-89+634G=) c.-385+634G= (n.-385+634G=) | |
4 | g.931411T>A | CA800080252 | GAK | c.145+632A>T (n.145+632A>T) n.178+632A>T c.117+660A>T (n.117+660A>T) c.-89+632A>T (n.-89+632A>T) c.-385+632A>T (n.-385+632A>T) | dbSNP |
4 | g.931411T>C | CA1058438880 | GAK | c.145+632A>G (n.145+632A>G) n.178+632A>G c.117+660A>G (n.117+660A>G) c.-89+632A>G (n.-89+632A>G) c.-385+632A>G (n.-385+632A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931411T= | CA1433026961 | GAK | c.145+632A= (n.145+632A=) n.178+632A= c.117+660A= (n.117+660A=) c.-89+632A= (n.-89+632A=) c.-385+632A= (n.-385+632A=) | |
4 | g.931412C>A | CA800080254 | GAK | c.145+631G>T (n.145+631G>T) n.178+631G>T c.117+659G>T (n.117+659G>T) c.-89+631G>T (n.-89+631G>T) c.-385+631G>T (n.-385+631G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931412C= | CA1433026962 | GAK | c.145+631G= (n.145+631G=) n.178+631G= c.117+659G= (n.117+659G=) c.-89+631G= (n.-89+631G=) c.-385+631G= (n.-385+631G=) | |
4 | g.931412C>T | CA91135419 | GAK | c.145+631G>A (n.145+631G>A) n.178+631G>A c.117+659G>A (n.117+659G>A) c.-89+631G>A (n.-89+631G>A) c.-385+631G>A (n.-385+631G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931413G>T | CA2760123676 | GAK | c.145+630C>A (n.145+630C>A) n.178+630C>A c.117+658C>A (n.117+658C>A) c.-89+630C>A (n.-89+630C>A) c.-385+630C>A (n.-385+630C>A) | |
4 | g.931416_931417insCGGGCCCCCCCCCCCCCCCAGCC | CA2760123677 | GAK | c.145+629_145+630insTGGGGGGGGGGGGGGGCCCGGGC (n.145+629_145+630insTGGGGGGGGGGGGGGGCCCGGGC) n.178+629_178+630insTGGGGGGGGGGGGGGGCCCGGGC c.117+657_117+658insTGGGGGGGGGGGGGGGCCCGGGC (n.117+657_117+658insTGGGGGGGGGGGGGGGCCCGGGC) c.-89+629_-89+630insTGGGGGGGGGGGGGGGCCCGGGC (n.-89+629_-89+630insTGGGGGGGGGGGGGGGCCCGGGC) c.-385+629_-385+630insTGGGGGGGGGGGGGGGCCCGGGC (n.-385+629_-385+630insTGGGGGGGGGGGGGGGCCCGGGC) | |
4 | g.931416dup | CA1058438890 | GAK | c.145+628dup (n.145+628dup) n.178+628dup c.117+656dup (n.117+656dup) c.-89+628dup (n.-89+628dup) c.-385+628dup (n.-385+628dup) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCCCCCCCCCCCCCCCCCAA | CA1058438889 | GAK | c.145+628_145+629insGGGGGGGGGGGGGGGGGGTTTGG (n.145+628_145+629insGGGGGGGGGGGGGGGGGGTTTGG) n.178+628_178+629insGGGGGGGGGGGGGGGGGGTTTGG c.117+656_117+657insGGGGGGGGGGGGGGGGGGTTTGG (n.117+656_117+657insGGGGGGGGGGGGGGGGGGTTTGG) c.-89+628_-89+629insGGGGGGGGGGGGGGGGGGTTTGG (n.-89+628_-89+629insGGGGGGGGGGGGGGGGGGTTTGG) c.-385+628_-385+629insGGGGGGGGGGGGGGGGGGTTTGG (n.-385+628_-385+629insGGGGGGGGGGGGGGGGGGTTTGG) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCCCCCCCCCCCCCCCCCCAA | CA1058438885 | GAK | c.145+628_145+629insGGGGGGGGGGGGGGGGGGGTTTGG (n.145+628_145+629insGGGGGGGGGGGGGGGGGGGTTTGG) n.178+628_178+629insGGGGGGGGGGGGGGGGGGGTTTGG c.117+656_117+657insGGGGGGGGGGGGGGGGGGGTTTGG (n.117+656_117+657insGGGGGGGGGGGGGGGGGGGTTTGG) c.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGTTTGG (n.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGTTTGG) c.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGTTTGG (n.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGTTTGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCCC | CA1058438891 | GAK | c.145+628_145+629insGGGGGGGGGGGGGGGGGGGTTGG (n.145+628_145+629insGGGGGGGGGGGGGGGGGGGTTGG) n.178+628_178+629insGGGGGGGGGGGGGGGGGGGTTGG c.117+656_117+657insGGGGGGGGGGGGGGGGGGGTTGG (n.117+656_117+657insGGGGGGGGGGGGGGGGGGGTTGG) c.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGTTGG (n.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGTTGG) c.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGTTGG (n.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGTTGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCAACCCCCCC | CA1058438888 | GAK | c.145+628_145+629insTGGGGGGGGGGGGGGGGGGGTTGG (n.145+628_145+629insTGGGGGGGGGGGGGGGGGGGTTGG) n.178+628_178+629insTGGGGGGGGGGGGGGGGGGGTTGG c.117+656_117+657insTGGGGGGGGGGGGGGGGGGGTTGG (n.117+656_117+657insTGGGGGGGGGGGGGGGGGGGTTGG) c.-89+628_-89+629insTGGGGGGGGGGGGGGGGGGGTTGG (n.-89+628_-89+629insTGGGGGGGGGGGGGGGGGGGTTGG) c.-385+628_-385+629insTGGGGGGGGGGGGGGGGGGGTTGG (n.-385+628_-385+629insTGGGGGGGGGGGGGGGGGGGTTGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCCCCC | CA1058438886 | GAK | c.145+628_145+629insGGGGGGGGGGGGGGGGGGGGTTGG (n.145+628_145+629insGGGGGGGGGGGGGGGGGGGGTTGG) n.178+628_178+629insGGGGGGGGGGGGGGGGGGGGTTGG c.117+656_117+657insGGGGGGGGGGGGGGGGGGGGTTGG (n.117+656_117+657insGGGGGGGGGGGGGGGGGGGGTTGG) c.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGGTTGG (n.-89+628_-89+629insGGGGGGGGGGGGGGGGGGGGTTGG) c.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGGTTGG (n.-385+628_-385+629insGGGGGGGGGGGGGGGGGGGGTTGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACCAACCCCCCC | CA2504958537 | GAK | c.145+628_145+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG (n.145+628_145+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG) n.178+628_178+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG c.117+656_117+657insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG (n.117+656_117+657insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG) c.-89+628_-89+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG (n.-89+628_-89+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG) c.-385+628_-385+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG (n.-385+628_-385+629insTGGGGGTGGGGGGGGGGGGGGGGGGGGGGTTGG) | |
4 | g.931416C= | CA1433026963 | GAK | c.145+627G= (n.145+627G=) n.178+627G= c.117+655G= (n.117+655G=) c.-89+627G= (n.-89+627G=) c.-385+627G= (n.-385+627G=) | |
4 | g.931417A= | CA1433026964 | GAK | c.145+626T= (n.145+626T=) n.178+626T= c.117+654T= (n.117+654T=) c.-89+626T= (n.-89+626T=) c.-385+626T= (n.-385+626T=) | |
4 | g.931417A>C | CA549162172 | GAK | c.145+626T>G (n.145+626T>G) n.178+626T>G c.117+654T>G (n.117+654T>G) c.-89+626T>G (n.-89+626T>G) c.-385+626T>G (n.-385+626T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931417_931418del | CA1058438901 | GAK | c.145+625_145+626del (n.145+625_145+626del) n.178+625_178+626del c.117+653_117+654del (n.117+653_117+654del) c.-89+625_-89+626del (n.-89+625_-89+626del) c.-385+625_-385+626del (n.-385+625_-385+626del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931418dup | CA549162170 | GAK | c.145+626dup (n.145+626dup) n.178+626dup c.117+654dup (n.117+654dup) c.-89+626dup (n.-89+626dup) c.-385+626dup (n.-385+626dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931417_931418dup | CA1058438894 | GAK | c.145+625_145+626dup (n.145+625_145+626dup) n.178+625_178+626dup c.117+653_117+654dup (n.117+653_117+654dup) c.-89+625_-89+626dup (n.-89+625_-89+626dup) c.-385+625_-385+626dup (n.-385+625_-385+626dup) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAAACCCCCCC | CA1058438899 | GAK | c.145+626_145+627insTGGGGGGGGGGGGGGGGGGGGGTT (n.145+626_145+627insTGGGGGGGGGGGGGGGGGGGGGTT) n.178+626_178+627insTGGGGGGGGGGGGGGGGGGGGGTT c.117+654_117+655insTGGGGGGGGGGGGGGGGGGGGGTT (n.117+654_117+655insTGGGGGGGGGGGGGGGGGGGGGTT) c.-89+626_-89+627insTGGGGGGGGGGGGGGGGGGGGGTT (n.-89+626_-89+627insTGGGGGGGGGGGGGGGGGGGGGTT) c.-385+626_-385+627insTGGGGGGGGGGGGGGGGGGGGGTT (n.-385+626_-385+627insTGGGGGGGGGGGGGGGGGGGGGTT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCCCAAACCCCCCC | CA2760123678 | GAK | c.145+626_145+627insTGGGGCGGGGGGGGGGGGGGGGTT (n.145+626_145+627insTGGGGCGGGGGGGGGGGGGGGGTT) n.178+626_178+627insTGGGGCGGGGGGGGGGGGGGGGTT c.117+654_117+655insTGGGGCGGGGGGGGGGGGGGGGTT (n.117+654_117+655insTGGGGCGGGGGGGGGGGGGGGGTT) c.-89+626_-89+627insTGGGGCGGGGGGGGGGGGGGGGTT (n.-89+626_-89+627insTGGGGCGGGGGGGGGGGGGGGGTT) c.-385+626_-385+627insTGGGGCGGGGGGGGGGGGGGGGTT (n.-385+626_-385+627insTGGGGCGGGGGGGGGGGGGGGGTT) | |
4 | g.931417_931418insG | CA2760123692 | GAK | c.145+625_145+626insC (n.145+625_145+626insC) n.178+625_178+626insC c.117+653_117+654insC (n.117+653_117+654insC) c.-89+625_-89+626insC (n.-89+625_-89+626insC) c.-385+625_-385+626insC (n.-385+625_-385+626insC) | |
4 | g.931417_931418insGG | CA1058438925 | GAK | c.145+625_145+626insCC (n.145+625_145+626insCC) n.178+625_178+626insCC c.117+653_117+654insCC (n.117+653_117+654insCC) c.-89+625_-89+626insCC (n.-89+625_-89+626insCC) c.-385+625_-385+626insCC (n.-385+625_-385+626insCC) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931417_931418insTG | CA2760123685 | GAK | c.145+625_145+626insCA (n.145+625_145+626insCA) n.178+625_178+626insCA c.117+653_117+654insCA (n.117+653_117+654insCA) c.-89+625_-89+626insCA (n.-89+625_-89+626insCA) c.-385+625_-385+626insCA (n.-385+625_-385+626insCA) | |
4 | g.931417_931418insGGG | CA1058438918 | GAK | c.145+625_145+626insCCC (n.145+625_145+626insCCC) n.178+625_178+626insCCC c.117+653_117+654insCCC (n.117+653_117+654insCCC) c.-89+625_-89+626insCCC (n.-89+625_-89+626insCCC) c.-385+625_-385+626insCCC (n.-385+625_-385+626insCCC) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGCC | CA1058438912 | GAK | c.145+625_145+626insGGCC (n.145+625_145+626insGGCC) n.178+625_178+626insGGCC c.117+653_117+654insGGCC (n.117+653_117+654insGGCC) c.-89+625_-89+626insGGCC (n.-89+625_-89+626insGGCC) c.-385+625_-385+626insGGCC (n.-385+625_-385+626insGGCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGC | CA1058438919 | GAK | c.145+625_145+626insGCCC (n.145+625_145+626insGCCC) n.178+625_178+626insGCCC c.117+653_117+654insGCCC (n.117+653_117+654insGCCC) c.-89+625_-89+626insGCCC (n.-89+625_-89+626insGCCC) c.-385+625_-385+626insGCCC (n.-385+625_-385+626insGCCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGG | CA2555104922 | GAK | c.145+625_145+626insCCCC (n.145+625_145+626insCCCC) n.178+625_178+626insCCCC c.117+653_117+654insCCCC (n.117+653_117+654insCCCC) c.-89+625_-89+626insCCCC (n.-89+625_-89+626insCCCC) c.-385+625_-385+626insCCCC (n.-385+625_-385+626insCCCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insTGCC | CA2760123686 | GAK | c.145+625_145+626insGGCA (n.145+625_145+626insGGCA) n.178+625_178+626insGGCA c.117+653_117+654insGGCA (n.117+653_117+654insGGCA) c.-89+625_-89+626insGGCA (n.-89+625_-89+626insGGCA) c.-385+625_-385+626insGGCA (n.-385+625_-385+626insGGCA) | |
4 | g.931417_931418insCCGCC | CA2760123691 | GAK | c.145+625_145+626insGGCGG (n.145+625_145+626insGGCGG) n.178+625_178+626insGGCGG c.117+653_117+654insGGCGG (n.117+653_117+654insGGCGG) c.-89+625_-89+626insGGCGG (n.-89+625_-89+626insGGCGG) c.-385+625_-385+626insGGCGG (n.-385+625_-385+626insGGCGG) | |
4 | g.931417_931418insGGCCC | CA1058438916 | GAK | c.145+625_145+626insGGGCC (n.145+625_145+626insGGGCC) n.178+625_178+626insGGGCC c.117+653_117+654insGGGCC (n.117+653_117+654insGGGCC) c.-89+625_-89+626insGGGCC (n.-89+625_-89+626insGGGCC) c.-385+625_-385+626insGGGCC (n.-385+625_-385+626insGGGCC) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGCC | CA2546662395 | GAK | c.145+625_145+626insGGCCC (n.145+625_145+626insGGCCC) n.178+625_178+626insGGCCC c.117+653_117+654insGGCCC (n.117+653_117+654insGGCCC) c.-89+625_-89+626insGGCCC (n.-89+625_-89+626insGGCCC) c.-385+625_-385+626insGGCCC (n.-385+625_-385+626insGGCCC) | |
4 | g.931417_931418insCCCCCCC | CA1433026967 | GAK | c.145+625_145+626insGGGGGGG (n.145+625_145+626insGGGGGGG) n.178+625_178+626insGGGGGGG c.117+653_117+654insGGGGGGG (n.117+653_117+654insGGGGGGG) c.-89+625_-89+626insGGGGGGG (n.-89+625_-89+626insGGGGGGG) c.-385+625_-385+626insGGGGGGG (n.-385+625_-385+626insGGGGGGG) | dbSNP |
4 | g.931417_931418insGCCCCCC | CA2760123693 | GAK | c.145+625_145+626insGGGGGGC (n.145+625_145+626insGGGGGGC) n.178+625_178+626insGGGGGGC c.117+653_117+654insGGGGGGC (n.117+653_117+654insGGGGGGC) c.-89+625_-89+626insGGGGGGC (n.-89+625_-89+626insGGGGGGC) c.-385+625_-385+626insGGGGGGC (n.-385+625_-385+626insGGGGGGC) | |
4 | g.931417_931418insGGCCCCCC | CA1058438917 | GAK | c.145+625_145+626insGGGGGGCC (n.145+625_145+626insGGGGGGCC) n.178+625_178+626insGGGGGGCC c.117+653_117+654insGGGGGGCC (n.117+653_117+654insGGGGGGCC) c.-89+625_-89+626insGGGGGGCC (n.-89+625_-89+626insGGGGGGCC) c.-385+625_-385+626insGGGGGGCC (n.-385+625_-385+626insGGGGGGCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGCCCCC | CA1058438921 | GAK | c.145+625_145+626insGGGGGCCC (n.145+625_145+626insGGGGGCCC) n.178+625_178+626insGGGGGCCC c.117+653_117+654insGGGGGCCC (n.117+653_117+654insGGGGGCCC) c.-89+625_-89+626insGGGGGCCC (n.-89+625_-89+626insGGGGGCCC) c.-385+625_-385+626insGGGGGCCC (n.-385+625_-385+626insGGGGGCCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGGCCCC | CA2760123683 | GAK | c.145+625_145+626insGGGGCCCC (n.145+625_145+626insGGGGCCCC) n.178+625_178+626insGGGGCCCC c.117+653_117+654insGGGGCCCC (n.117+653_117+654insGGGGCCCC) c.-89+625_-89+626insGGGGCCCC (n.-89+625_-89+626insGGGGCCCC) c.-385+625_-385+626insGGGGCCCC (n.-385+625_-385+626insGGGGCCCC) | |
4 | g.931417_931418insGGCCCCCCCC | CA2760123697 | GAK | c.145+625_145+626insGGGGGGGGCC (n.145+625_145+626insGGGGGGGGCC) n.178+625_178+626insGGGGGGGGCC c.117+653_117+654insGGGGGGGGCC (n.117+653_117+654insGGGGGGGGCC) c.-89+625_-89+626insGGGGGGGGCC (n.-89+625_-89+626insGGGGGGGGCC) c.-385+625_-385+626insGGGGGGGGCC (n.-385+625_-385+626insGGGGGGGGCC) | |
4 | g.931417_931418insGCCCCCCCCCC | CA2760123694 | GAK | c.145+625_145+626insGGGGGGGGGGC (n.145+625_145+626insGGGGGGGGGGC) n.178+625_178+626insGGGGGGGGGGC c.117+653_117+654insGGGGGGGGGGC (n.117+653_117+654insGGGGGGGGGGC) c.-89+625_-89+626insGGGGGGGGGGC (n.-89+625_-89+626insGGGGGGGGGGC) c.-385+625_-385+626insGGGGGGGGGGC (n.-385+625_-385+626insGGGGGGGGGGC) | |
4 | g.931417_931418insGCCCCCCCCCCC | CA2760123695 | GAK | c.145+625_145+626insGGGGGGGGGGGC (n.145+625_145+626insGGGGGGGGGGGC) n.178+625_178+626insGGGGGGGGGGGC c.117+653_117+654insGGGGGGGGGGGC (n.117+653_117+654insGGGGGGGGGGGC) c.-89+625_-89+626insGGGGGGGGGGGC (n.-89+625_-89+626insGGGGGGGGGGGC) c.-385+625_-385+626insGGGGGGGGGGGC (n.-385+625_-385+626insGGGGGGGGGGGC) | |
4 | g.931417_931418insGGGGCCCCCCCC | CA2522810219 | GAK | c.145+625_145+626insGGGGGGGGCCCC (n.145+625_145+626insGGGGGGGGCCCC) n.178+625_178+626insGGGGGGGGCCCC c.117+653_117+654insGGGGGGGGCCCC (n.117+653_117+654insGGGGGGGGCCCC) c.-89+625_-89+626insGGGGGGGGCCCC (n.-89+625_-89+626insGGGGGGGGCCCC) c.-385+625_-385+626insGGGGGGGGCCCC (n.-385+625_-385+626insGGGGGGGGCCCC) | |
4 | g.931417_931418insGGCCCCCCCCCCC | CA2760123698 | GAK | c.145+625_145+626insGGGGGGGGGGGCC (n.145+625_145+626insGGGGGGGGGGGCC) n.178+625_178+626insGGGGGGGGGGGCC c.117+653_117+654insGGGGGGGGGGGCC (n.117+653_117+654insGGGGGGGGGGGCC) c.-89+625_-89+626insGGGGGGGGGGGCC (n.-89+625_-89+626insGGGGGGGGGGGCC) c.-385+625_-385+626insGGGGGGGGGGGCC (n.-385+625_-385+626insGGGGGGGGGGGCC) | |
4 | g.931417_931418insGGGCCCCCCCCCC | CA2704791312 | GAK | c.145+625_145+626insGGGGGGGGGGCCC (n.145+625_145+626insGGGGGGGGGGCCC) n.178+625_178+626insGGGGGGGGGGCCC c.117+653_117+654insGGGGGGGGGGCCC (n.117+653_117+654insGGGGGGGGGGCCC) c.-89+625_-89+626insGGGGGGGGGGCCC (n.-89+625_-89+626insGGGGGGGGGGCCC) c.-385+625_-385+626insGGGGGGGGGGCCC (n.-385+625_-385+626insGGGGGGGGGGCCC) | dbSNP |
4 | g.931417_931418insCCCCCCCCCCCCCC | CA2760123690 | GAK | c.145+625_145+626insGGGGGGGGGGGGGG (n.145+625_145+626insGGGGGGGGGGGGGG) n.178+625_178+626insGGGGGGGGGGGGGG c.117+653_117+654insGGGGGGGGGGGGGG (n.117+653_117+654insGGGGGGGGGGGGGG) c.-89+625_-89+626insGGGGGGGGGGGGGG (n.-89+625_-89+626insGGGGGGGGGGGGGG) c.-385+625_-385+626insGGGGGGGGGGGGGG (n.-385+625_-385+626insGGGGGGGGGGGGGG) | |
4 | g.931417_931418insGGCCCCCCCCCCCC | CA2760123699 | GAK | c.145+625_145+626insGGGGGGGGGGGGCC (n.145+625_145+626insGGGGGGGGGGGGCC) n.178+625_178+626insGGGGGGGGGGGGCC c.117+653_117+654insGGGGGGGGGGGGCC (n.117+653_117+654insGGGGGGGGGGGGCC) c.-89+625_-89+626insGGGGGGGGGGGGCC (n.-89+625_-89+626insGGGGGGGGGGGGCC) c.-385+625_-385+626insGGGGGGGGGGGGCC (n.-385+625_-385+626insGGGGGGGGGGGGCC) | |
4 | g.931417_931418insGCCCCCCCCCCCCCC | CA2591009587 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGC (n.145+625_145+626insGGGGGGGGGGGGGGC) n.178+625_178+626insGGGGGGGGGGGGGGC c.117+653_117+654insGGGGGGGGGGGGGGC (n.117+653_117+654insGGGGGGGGGGGGGGC) c.-89+625_-89+626insGGGGGGGGGGGGGGC (n.-89+625_-89+626insGGGGGGGGGGGGGGC) c.-385+625_-385+626insGGGGGGGGGGGGGGC (n.-385+625_-385+626insGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGCCCCCCCCCCCCC | CA2591009585 | GAK | c.145+625_145+626insGGGGGGGGGGGGGCC (n.145+625_145+626insGGGGGGGGGGGGGCC) n.178+625_178+626insGGGGGGGGGGGGGCC c.117+653_117+654insGGGGGGGGGGGGGCC (n.117+653_117+654insGGGGGGGGGGGGGCC) c.-89+625_-89+626insGGGGGGGGGGGGGCC (n.-89+625_-89+626insGGGGGGGGGGGGGCC) c.-385+625_-385+626insGGGGGGGGGGGGGCC (n.-385+625_-385+626insGGGGGGGGGGGGGCC) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGCCCCCCCCCCCC | CA2760123679 | GAK | c.145+625_145+626insGGGGGGGGGGGGCCC (n.145+625_145+626insGGGGGGGGGGGGCCC) n.178+625_178+626insGGGGGGGGGGGGCCC c.117+653_117+654insGGGGGGGGGGGGCCC (n.117+653_117+654insGGGGGGGGGGGGCCC) c.-89+625_-89+626insGGGGGGGGGGGGCCC (n.-89+625_-89+626insGGGGGGGGGGGGCCC) c.-385+625_-385+626insGGGGGGGGGGGGCCC (n.-385+625_-385+626insGGGGGGGGGGGGCCC) | |
4 | g.931417_931418insGGGGCCCCCCCCCCC | CA2760123684 | GAK | c.145+625_145+626insGGGGGGGGGGGCCCC (n.145+625_145+626insGGGGGGGGGGGCCCC) n.178+625_178+626insGGGGGGGGGGGCCCC c.117+653_117+654insGGGGGGGGGGGCCCC (n.117+653_117+654insGGGGGGGGGGGCCCC) c.-89+625_-89+626insGGGGGGGGGGGCCCC (n.-89+625_-89+626insGGGGGGGGGGGCCCC) c.-385+625_-385+626insGGGGGGGGGGGCCCC (n.-385+625_-385+626insGGGGGGGGGGGCCCC) | |
4 | g.931417_931418insTGGCCCCCCCCCCCC | CA2760123687 | GAK | c.145+625_145+626insGGGGGGGGGGGGCCA (n.145+625_145+626insGGGGGGGGGGGGCCA) n.178+625_178+626insGGGGGGGGGGGGCCA c.117+653_117+654insGGGGGGGGGGGGCCA (n.117+653_117+654insGGGGGGGGGGGGCCA) c.-89+625_-89+626insGGGGGGGGGGGGCCA (n.-89+625_-89+626insGGGGGGGGGGGGCCA) c.-385+625_-385+626insGGGGGGGGGGGGCCA (n.-385+625_-385+626insGGGGGGGGGGGGCCA) | |
4 | g.931417_931418insGGGCCCCCCCCCCCCC | CA2760123680 | GAK | c.145+625_145+626insGGGGGGGGGGGGGCCC (n.145+625_145+626insGGGGGGGGGGGGGCCC) n.178+625_178+626insGGGGGGGGGGGGGCCC c.117+653_117+654insGGGGGGGGGGGGGCCC (n.117+653_117+654insGGGGGGGGGGGGGCCC) c.-89+625_-89+626insGGGGGGGGGGGGGCCC (n.-89+625_-89+626insGGGGGGGGGGGGGCCC) c.-385+625_-385+626insGGGGGGGGGGGGGCCC (n.-385+625_-385+626insGGGGGGGGGGGGGCCC) | |
4 | g.931417_931418insGGGGCCCCCCCCCCCC | CA2591009586 | GAK | c.145+625_145+626insGGGGGGGGGGGGCCCC (n.145+625_145+626insGGGGGGGGGGGGCCCC) n.178+625_178+626insGGGGGGGGGGGGCCCC c.117+653_117+654insGGGGGGGGGGGGCCCC (n.117+653_117+654insGGGGGGGGGGGGCCCC) c.-89+625_-89+626insGGGGGGGGGGGGCCCC (n.-89+625_-89+626insGGGGGGGGGGGGCCCC) c.-385+625_-385+626insGGGGGGGGGGGGCCCC (n.-385+625_-385+626insGGGGGGGGGGGGCCCC) | gnomAD v3 gnomAD v4 |
4 | g.931417_931418insGGGGCCCCCCCCCCCCCCCC | CA2568775271 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGCCCC (n.145+625_145+626insGGGGGGGGGGGGGGGGCCCC) n.178+625_178+626insGGGGGGGGGGGGGGGGCCCC c.117+653_117+654insGGGGGGGGGGGGGGGGCCCC (n.117+653_117+654insGGGGGGGGGGGGGGGGCCCC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGCCCC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGCCCC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGCCCC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGCCCC) | |
4 | g.931417_931418insCCCCCCCCCCCCCCCCCCCC | CA2760123688 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGG (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGG) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGG c.117+653_117+654insGGGGGGGGGGGGGGGGGGGG (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGG) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGG (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGG) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGG (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931417_931418insGGCCCCCCCCCCCCCCCCCCC | CA2760123689 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGCC (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGCC) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGCC c.117+653_117+654insGGGGGGGGGGGGGGGGGGGCC (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGCC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGCC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGCC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGCC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGCC) | |
4 | g.931417_931418insGGGCCCCCCCCCCCCCCCCCCC | CA2760123681 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGCCC (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGCCC) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGCCC c.117+653_117+654insGGGGGGGGGGGGGGGGGGGCCC (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGCCC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGCCC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGCCC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGCCC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGCCC) | |
4 | g.931417_931418insGGGGCCCCCCCCCCCCCCCCCC | CA2512847866 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGCCCC (n.145+625_145+626insGGGGGGGGGGGGGGGGGGCCCC) n.178+625_178+626insGGGGGGGGGGGGGGGGGGCCCC c.117+653_117+654insGGGGGGGGGGGGGGGGGGCCCC (n.117+653_117+654insGGGGGGGGGGGGGGGGGGCCCC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGCCCC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGCCCC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGCCCC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGCCCC) | |
4 | g.931417_931418insGCCCCCCCCCCCCCCCCCCCCCCC | CA2760123696 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGC (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGC) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGGGGGC c.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGC (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGC) | |
4 | g.931417_931418insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2760123682 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC c.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCC) | |
4 | g.931418A= | CA1433026965 | GAK | c.145+625T= (n.145+625T=) n.178+625T= c.117+653T= (n.117+653T=) c.-89+625T= (n.-89+625T=) c.-385+625T= (n.-385+625T=) | |
4 | g.931418A>C | CA1058438923 | GAK | c.145+625T>G (n.145+625T>G) n.178+625T>G c.117+653T>G (n.117+653T>G) c.-89+625T>G (n.-89+625T>G) c.-385+625T>G (n.-385+625T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931418A>G | CA1058438922 | GAK | c.145+625T>C (n.145+625T>C) n.178+625T>C c.117+653T>C (n.117+653T>C) c.-89+625T>C (n.-89+625T>C) c.-385+625T>C (n.-385+625T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931418_931419delinsAC | CA1433026966 | GAK | c.145+624_145+625delinsGT (n.145+624_145+625delinsGT) n.178+624_178+625delinsGT c.117+652_117+653delinsGT (n.117+652_117+653delinsGT) c.-89+624_-89+625delinsGT (n.-89+624_-89+625delinsGT) c.-385+624_-385+625delinsGT (n.-385+624_-385+625delinsGT) | |
4 | g.931418_931419dup | CA1058438941 | GAK | c.145+624_145+625dup (n.145+624_145+625dup) n.178+624_178+625dup c.117+652_117+653dup (n.117+652_117+653dup) c.-89+624_-89+625dup (n.-89+624_-89+625dup) c.-385+624_-385+625dup (n.-385+624_-385+625dup) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCCCCCC | CA1058438940 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCACCCCCCC | CA1058438935 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCACCCCCCC | CA1058438939 | GAK | c.145+625_145+626insGGTGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGTGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGTGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGTGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGTGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGTGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGTGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGTGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGTGGGGGGGGGGGGGGGGGGGT) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCC | CA1058438929 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCTACCCCCCC | CA2522810220 | GAK | c.145+625_145+626insAGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insAGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insAGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insAGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insAGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insAGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insAGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insAGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insAGGGGGGGGGGGGGGGGGGGGGGT) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCCACCCCCCC | CA2550995205 | GAK | c.145+625_145+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCCCCCCCACCCCCCCCAGCACCCCCCC | CA549162175 | GAK | c.145+625_145+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGCTGGGGGGGGTGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCACCCCCCCCCACCCACCTGCACCCCCCC | CA1058438931 | GAK | c.145+625_145+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGCAGGTGGGTGGGGGGGGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCCACCCACAACCCCCCTATACCCCCCC | CA1058438927 | GAK | c.145+625_145+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insATAGGGGGGTTGTGGGTGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCC | CA1058438928 | GAK | c.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCACCCCTGGCCCCCCCCCACCCCCCC | CA1058438926 | GAK | c.145+625_145+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.145+625_145+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) n.178+625_178+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT c.117+653_117+654insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.117+653_117+654insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-89+625_-89+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-89+625_-89+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) c.-385+625_-385+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT (n.-385+625_-385+626insGGGGGGGGGCCAGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insG | CA1058439136 | GAK | c.145+624_145+625insC (n.145+624_145+625insC) n.178+624_178+625insC c.117+652_117+653insC (n.117+652_117+653insC) c.-89+624_-89+625insC (n.-89+624_-89+625insC) c.-385+624_-385+625insC (n.-385+624_-385+625insC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insAC | CA1058439223 | GAK | c.145+624_145+625insGT (n.145+624_145+625insGT) n.178+624_178+625insGT c.117+652_117+653insGT (n.117+652_117+653insGT) c.-89+624_-89+625insGT (n.-89+624_-89+625insGT) c.-385+624_-385+625insGT (n.-385+624_-385+625insGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGC | CA2547597103 | GAK | c.145+624_145+625insGC (n.145+624_145+625insGC) n.178+624_178+625insGC c.117+652_117+653insGC (n.117+652_117+653insGC) c.-89+624_-89+625insGC (n.-89+624_-89+625insGC) c.-385+624_-385+625insGC (n.-385+624_-385+625insGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGG | CA2760123705 | GAK | c.145+624_145+625insCC (n.145+624_145+625insCC) n.178+624_178+625insCC c.117+652_117+653insCC (n.117+652_117+653insCC) c.-89+624_-89+625insCC (n.-89+624_-89+625insCC) c.-385+624_-385+625insCC (n.-385+624_-385+625insCC) | |
4 | g.931418_931419insACC | CA1058439221 | GAK | c.145+624_145+625insGGT (n.145+624_145+625insGGT) n.178+624_178+625insGGT c.117+652_117+653insGGT (n.117+652_117+653insGGT) c.-89+624_-89+625insGGT (n.-89+624_-89+625insGGT) c.-385+624_-385+625insGGT (n.-385+624_-385+625insGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCC | CA2591009598 | GAK | c.145+624_145+625insGGC (n.145+624_145+625insGGC) n.178+624_178+625insGGC c.117+652_117+653insGGC (n.117+652_117+653insGGC) c.-89+624_-89+625insGGC (n.-89+624_-89+625insGGC) c.-385+624_-385+625insGGC (n.-385+624_-385+625insGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCC | CA1058439219 | GAK | c.145+624_145+625insGGGT (n.145+624_145+625insGGGT) n.178+624_178+625insGGGT c.117+652_117+653insGGGT (n.117+652_117+653insGGGT) c.-89+624_-89+625insGGGT (n.-89+624_-89+625insGGGT) c.-385+624_-385+625insGGGT (n.-385+624_-385+625insGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCC | CA1058439131 | GAK | c.145+624_145+625insGGGC (n.145+624_145+625insGGGC) n.178+624_178+625insGGGC c.117+652_117+653insGGGC (n.117+652_117+653insGGGC) c.-89+624_-89+625insGGGC (n.-89+624_-89+625insGGGC) c.-385+624_-385+625insGGGC (n.-385+624_-385+625insGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGGCC | CA1058439117 | GAK | c.145+624_145+625insGGCC (n.145+624_145+625insGGCC) n.178+624_178+625insGGCC c.117+652_117+653insGGCC (n.117+652_117+653insGGCC) c.-89+624_-89+625insGGCC (n.-89+624_-89+625insGGCC) c.-385+624_-385+625insGGCC (n.-385+624_-385+625insGGCC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCC | CA1058439217 | GAK | c.145+624_145+625insGGGGT (n.145+624_145+625insGGGGT) n.178+624_178+625insGGGGT c.117+652_117+653insGGGGT (n.117+652_117+653insGGGGT) c.-89+624_-89+625insGGGGT (n.-89+624_-89+625insGGGGT) c.-385+624_-385+625insGGGGT (n.-385+624_-385+625insGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCC | CA1058439097 | GAK | c.145+624_145+625insGGGGC (n.145+624_145+625insGGGGC) n.178+624_178+625insGGGGC c.117+652_117+653insGGGGC (n.117+652_117+653insGGGGC) c.-89+624_-89+625insGGGGC (n.-89+624_-89+625insGGGGC) c.-385+624_-385+625insGGGGC (n.-385+624_-385+625insGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGGCCC | CA1058439113 | GAK | c.145+624_145+625insGGGCC (n.145+624_145+625insGGGCC) n.178+624_178+625insGGGCC c.117+652_117+653insGGGCC (n.117+652_117+653insGGGCC) c.-89+624_-89+625insGGGCC (n.-89+624_-89+625insGGGCC) c.-385+624_-385+625insGGGCC (n.-385+624_-385+625insGGGCC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCC | CA1058439213 | GAK | c.145+624_145+625insGGGGGT (n.145+624_145+625insGGGGGT) n.178+624_178+625insGGGGGT c.117+652_117+653insGGGGGT (n.117+652_117+653insGGGGGT) c.-89+624_-89+625insGGGGGT (n.-89+624_-89+625insGGGGGT) c.-385+624_-385+625insGGGGGT (n.-385+624_-385+625insGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCC | CA2501049816 | GAK | c.145+624_145+625insGGGGGC (n.145+624_145+625insGGGGGC) n.178+624_178+625insGGGGGC c.117+652_117+653insGGGGGC (n.117+652_117+653insGGGGGC) c.-89+624_-89+625insGGGGGC (n.-89+624_-89+625insGGGGGC) c.-385+624_-385+625insGGGGGC (n.-385+624_-385+625insGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCCC | CA1058439207 | GAK | c.145+624_145+625insGGGGGGT (n.145+624_145+625insGGGGGGT) n.178+624_178+625insGGGGGGT c.117+652_117+653insGGGGGGT (n.117+652_117+653insGGGGGGT) c.-89+624_-89+625insGGGGGGT (n.-89+624_-89+625insGGGGGGT) c.-385+624_-385+625insGGGGGGT (n.-385+624_-385+625insGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCCC | CA1058439125 | GAK | c.145+624_145+625insGGGGGGC (n.145+624_145+625insGGGGGGC) n.178+624_178+625insGGGGGGC c.117+652_117+653insGGGGGGC (n.117+652_117+653insGGGGGGC) c.-89+624_-89+625insGGGGGGC (n.-89+624_-89+625insGGGGGGC) c.-385+624_-385+625insGGGGGGC (n.-385+624_-385+625insGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCCCC | CA1058439203 | GAK | c.145+624_145+625insGGGGGGGT (n.145+624_145+625insGGGGGGGT) n.178+624_178+625insGGGGGGGT c.117+652_117+653insGGGGGGGT (n.117+652_117+653insGGGGGGGT) c.-89+624_-89+625insGGGGGGGT (n.-89+624_-89+625insGGGGGGGT) c.-385+624_-385+625insGGGGGGGT (n.-385+624_-385+625insGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCCCC | CA1058439054 | GAK | c.145+624_145+625insGGGGGGGC (n.145+624_145+625insGGGGGGGC) n.178+624_178+625insGGGGGGGC c.117+652_117+653insGGGGGGGC (n.117+652_117+653insGGGGGGGC) c.-89+624_-89+625insGGGGGGGC (n.-89+624_-89+625insGGGGGGGC) c.-385+624_-385+625insGGGGGGGC (n.-385+624_-385+625insGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGGCCCCCC | CA2760123706 | GAK | c.145+624_145+625insGGGGGGCC (n.145+624_145+625insGGGGGGCC) n.178+624_178+625insGGGGGGCC c.117+652_117+653insGGGGGGCC (n.117+652_117+653insGGGGGGCC) c.-89+624_-89+625insGGGGGGCC (n.-89+624_-89+625insGGGGGGCC) c.-385+624_-385+625insGGGGGGCC (n.-385+624_-385+625insGGGGGGCC) | |
4 | g.931418_931419insGCCCCCCCC | CA2591009597 | GAK | c.145+624_145+625insGGGGGGGGC (n.145+624_145+625insGGGGGGGGC) n.178+624_178+625insGGGGGGGGC c.117+652_117+653insGGGGGGGGC (n.117+652_117+653insGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGGGCCCCCC | CA2562377128 | GAK | c.145+624_145+625insGGGGGGCCC (n.145+624_145+625insGGGGGGCCC) n.178+624_178+625insGGGGGGCCC c.117+652_117+653insGGGGGGCCC (n.117+652_117+653insGGGGGGCCC) c.-89+624_-89+625insGGGGGGCCC (n.-89+624_-89+625insGGGGGGCCC) c.-385+624_-385+625insGGGGGGCCC (n.-385+624_-385+625insGGGGGGCCC) | |
4 | g.931418_931419insGCCCCCCCCCCC | CA1058439122 | GAK | c.145+624_145+625insGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCCCCCCCCC | CA2553477385 | GAK | c.145+624_145+625insGGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGGC) | |
4 | g.931418_931419insGCCCCCCCCCCCCC | CA2564570850 | GAK | c.145+624_145+625insGGGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGGGC) | |
4 | g.931418_931419insGGCCCCCCCCCCCC | CA2561846329 | GAK | c.145+624_145+625insGGGGGGGGGGGGCC (n.145+624_145+625insGGGGGGGGGGGGCC) n.178+624_178+625insGGGGGGGGGGGGCC c.117+652_117+653insGGGGGGGGGGGGCC (n.117+652_117+653insGGGGGGGGGGGGCC) c.-89+624_-89+625insGGGGGGGGGGGGCC (n.-89+624_-89+625insGGGGGGGGGGGGCC) c.-385+624_-385+625insGGGGGGGGGGGGCC (n.-385+624_-385+625insGGGGGGGGGGGGCC) | |
4 | g.931418_931419insACCCCCCCCCCCCCC | CA1058439200 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGT (n.145+624_145+625insGGGGGGGGGGGGGGT) n.178+624_178+625insGGGGGGGGGGGGGGT c.117+652_117+653insGGGGGGGGGGGGGGT (n.117+652_117+653insGGGGGGGGGGGGGGT) c.-89+624_-89+625insGGGGGGGGGGGGGGT (n.-89+624_-89+625insGGGGGGGGGGGGGGT) c.-385+624_-385+625insGGGGGGGGGGGGGGT (n.-385+624_-385+625insGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCCCCCCCCCCC | CA2591009596 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insACCCCCCCCCCCCCCC | CA1058439199 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGT (n.145+624_145+625insGGGGGGGGGGGGGGGT) n.178+624_178+625insGGGGGGGGGGGGGGGT c.117+652_117+653insGGGGGGGGGGGGGGGT (n.117+652_117+653insGGGGGGGGGGGGGGGT) c.-89+624_-89+625insGGGGGGGGGGGGGGGT (n.-89+624_-89+625insGGGGGGGGGGGGGGGT) c.-385+624_-385+625insGGGGGGGGGGGGGGGT (n.-385+624_-385+625insGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGCCCCCCCCCCCCCCC | CA1058439121 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
4 | g.931418_931419insGGGGCCCCCCCCCCCCCCC | CA2760123707 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGCCCC (n.145+624_145+625insGGGGGGGGGGGGGGGCCCC) n.178+624_178+625insGGGGGGGGGGGGGGGCCCC c.117+652_117+653insGGGGGGGGGGGGGGGCCCC (n.117+652_117+653insGGGGGGGGGGGGGGGCCCC) c.-89+624_-89+625insGGGGGGGGGGGGGGGCCCC (n.-89+624_-89+625insGGGGGGGGGGGGGGGCCCC) c.-385+624_-385+625insGGGGGGGGGGGGGGGCCCC (n.-385+624_-385+625insGGGGGGGGGGGGGGGCCCC) | |
4 | g.931418_931419insACCCCCCCCCCCCCCCCCCCCCCC | CA2517082611 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGT (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGT) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGT c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGT (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGT) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGT (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGT) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGT (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGT) | |
4 | g.931418_931419insGCCCCCCCCCCCCCCCCCCACCACC | CA2760123703 | GAK | c.145+624_145+625insGGTGGTGGGGGGGGGGGGGGGGGGC (n.145+624_145+625insGGTGGTGGGGGGGGGGGGGGGGGGC) n.178+624_178+625insGGTGGTGGGGGGGGGGGGGGGGGGC c.117+652_117+653insGGTGGTGGGGGGGGGGGGGGGGGGC (n.117+652_117+653insGGTGGTGGGGGGGGGGGGGGGGGGC) c.-89+624_-89+625insGGTGGTGGGGGGGGGGGGGGGGGGC (n.-89+624_-89+625insGGTGGTGGGGGGGGGGGGGGGGGGC) c.-385+624_-385+625insGGTGGTGGGGGGGGGGGGGGGGGGC (n.-385+624_-385+625insGGTGGTGGGGGGGGGGGGGGGGGGC) | |
4 | g.931418_931419insGCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2760123704 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | |
4 | g.931419C>A | CA91135420 | GAK | c.145+624G>T (n.145+624G>T) n.178+624G>T c.117+652G>T (n.117+652G>T) c.-89+624G>T (n.-89+624G>T) c.-385+624G>T (n.-385+624G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931419C= | CA1433026968 | GAK | c.145+624G= (n.145+624G=) n.178+624G= c.117+652G= (n.117+652G=) c.-89+624G= (n.-89+624G=) c.-385+624G= (n.-385+624G=) | |
4 | g.931419C>G | CA1058439110 | GAK | c.145+624G>C (n.145+624G>C) n.178+624G>C c.117+652G>C (n.117+652G>C) c.-89+624G>C (n.-89+624G>C) c.-385+624G>C (n.-385+624G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931419C>T | CA549162177 | GAK | c.145+624G>A (n.145+624G>A) n.178+624G>A c.117+652G>A (n.117+652G>A) c.-89+624G>A (n.-89+624G>A) c.-385+624G>A (n.-385+624G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931419_931420insACC | CA1058439194 | GAK | c.145+624_145+625insGTG (n.145+624_145+625insGTG) n.178+624_178+625insGTG c.117+652_117+653insGTG (n.117+652_117+653insGTG) c.-89+624_-89+625insGTG (n.-89+624_-89+625insGTG) c.-385+624_-385+625insGTG (n.-385+624_-385+625insGTG) | gnomAD v3 gnomAD v4 |
4 | g.931419_931420insACCC | CA1058439188 | GAK | c.145+624_145+625insGGTG (n.145+624_145+625insGGTG) n.178+624_178+625insGGTG c.117+652_117+653insGGTG (n.117+652_117+653insGGTG) c.-89+624_-89+625insGGTG (n.-89+624_-89+625insGGTG) c.-385+624_-385+625insGGTG (n.-385+624_-385+625insGGTG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931419_931420insACCCC | CA1058439184 | GAK | c.145+624_145+625insGGGTG (n.145+624_145+625insGGGTG) n.178+624_178+625insGGGTG c.117+652_117+653insGGGTG (n.117+652_117+653insGGGTG) c.-89+624_-89+625insGGGTG (n.-89+624_-89+625insGGGTG) c.-385+624_-385+625insGGGTG (n.-385+624_-385+625insGGGTG) | gnomAD v3 gnomAD v4 |
4 | g.931419_931420insGGGGC | CA2760123701 | GAK | c.145+624_145+625insCCCCG (n.145+624_145+625insCCCCG) n.178+624_178+625insCCCCG c.117+652_117+653insCCCCG (n.117+652_117+653insCCCCG) c.-89+624_-89+625insCCCCG (n.-89+624_-89+625insCCCCG) c.-385+624_-385+625insCCCCG (n.-385+624_-385+625insCCCCG) | |
4 | g.931419_931420insGGCCCCCCC | CA2760123702 | GAK | c.145+624_145+625insGGGGGGCCG (n.145+624_145+625insGGGGGGCCG) n.178+624_178+625insGGGGGGCCG c.117+652_117+653insGGGGGGCCG (n.117+652_117+653insGGGGGGCCG) c.-89+624_-89+625insGGGGGGCCG (n.-89+624_-89+625insGGGGGGCCG) c.-385+624_-385+625insGGGGGGCCG (n.-385+624_-385+625insGGGGGGCCG) | |
4 | g.931419_931420insACCCCCCCCCCC | CA1058439181 | GAK | c.145+624_145+625insGGGGGGGGGGTG (n.145+624_145+625insGGGGGGGGGGTG) n.178+624_178+625insGGGGGGGGGGTG c.117+652_117+653insGGGGGGGGGGTG (n.117+652_117+653insGGGGGGGGGGTG) c.-89+624_-89+625insGGGGGGGGGGTG (n.-89+624_-89+625insGGGGGGGGGGTG) c.-385+624_-385+625insGGGGGGGGGGTG (n.-385+624_-385+625insGGGGGGGGGGTG) | gnomAD v3 gnomAD v4 |
4 | g.931419_931420insACCCCCCCCCCCCCC | CA2568772481 | GAK | c.145+624_145+625insGGGGGGGGGGGGGTG (n.145+624_145+625insGGGGGGGGGGGGGTG) n.178+624_178+625insGGGGGGGGGGGGGTG c.117+652_117+653insGGGGGGGGGGGGGTG (n.117+652_117+653insGGGGGGGGGGGGGTG) c.-89+624_-89+625insGGGGGGGGGGGGGTG (n.-89+624_-89+625insGGGGGGGGGGGGGTG) c.-385+624_-385+625insGGGGGGGGGGGGGTG (n.-385+624_-385+625insGGGGGGGGGGGGGTG) | |
4 | g.931419_931420insGCCCCCCCCCCCCCC | CA1058439139 | GAK | c.145+624_145+625insGGGGGGGGGGGGGCG (n.145+624_145+625insGGGGGGGGGGGGGCG) n.178+624_178+625insGGGGGGGGGGGGGCG c.117+652_117+653insGGGGGGGGGGGGGCG (n.117+652_117+653insGGGGGGGGGGGGGCG) c.-89+624_-89+625insGGGGGGGGGGGGGCG (n.-89+624_-89+625insGGGGGGGGGGGGGCG) c.-385+624_-385+625insGGGGGGGGGGGGGCG (n.-385+624_-385+625insGGGGGGGGGGGGGCG) | gnomAD v3 gnomAD v4 |
4 | g.931419_931420insACCCCCCCCCCCCCCCCCCCC | CA2504129796 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGTG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGTG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGTG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGTG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGTG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGTG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGTG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGTG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGTG) | |
4 | g.931421_931422insACCCCCCCCCCCCCCCCCC | CA1058439177 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGTGGG (n.145+624_145+625insGGGGGGGGGGGGGGGTGGG) n.178+624_178+625insGGGGGGGGGGGGGGGTGGG c.117+652_117+653insGGGGGGGGGGGGGGGTGGG (n.117+652_117+653insGGGGGGGGGGGGGGGTGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGTGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGTGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGTGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGTGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931421_931422insGCCCCCCCCCCCCCCCCCCCCCCCC | CA2760123700 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGCGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGCGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGCGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGCGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGCGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGCGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGCGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGCGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGCGGG) | |
4 | g.931425_931426insCCCCCCCC | CA917110317 | GAK | c.145+624_145+625insGGGGGGGG (n.145+624_145+625insGGGGGGGG) n.178+624_178+625insGGGGGGGG c.117+652_117+653insGGGGGGGG (n.117+652_117+653insGGGGGGGG) c.-89+624_-89+625insGGGGGGGG (n.-89+624_-89+625insGGGGGGGG) c.-385+624_-385+625insGGGGGGGG (n.-385+624_-385+625insGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCC | CA917110316 | GAK | c.145+624_145+625insGGGGGGGGG (n.145+624_145+625insGGGGGGGGG) n.178+624_178+625insGGGGGGGGG c.117+652_117+653insGGGGGGGGG (n.117+652_117+653insGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCC | CA1058439306 | GAK | c.145+624_145+625insGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGG c.117+652_117+653insGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCC | CA1058439304 | GAK | c.145+624_145+625insGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCC | CA917110315 | GAK | c.145+624_145+625insGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCC | CA1058439301 | GAK | c.145+624_145+625insGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCC | CA1058439298 | GAK | c.145+624_145+625insGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCC | CA917110314 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCC | CA1058439293 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCC | CA1058439107 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCC | CA1058439287 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCC | CA1058439305 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCC | CA1058439237 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCC | CA1058439197 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCC | CA1058439069 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCGGCCCCCCCCCC | CA1058439156 | GAK | c.145+624_145+625insGGGCCGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGCCGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGCCGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGCCGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGCCGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGCCGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGCCGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGCCGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGCCGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCC | CA1058439031 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCC | CA1058439055 | GAK | c.145+624_145+625insGTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCCCC | CA1058439229 | GAK | c.145+624_145+625insGTTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCACCCCCCCCC | CA1058439079 | GAK | c.145+624_145+625insGGTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439034 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCCCCCCCCCC | CA1058439242 | GAK | c.145+624_145+625insGGGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACAACCCCCCCC | CA1058439284 | GAK | c.145+624_145+625insGTTGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTTGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTTGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTTGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTTGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTTGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTTGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTTGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTTGTGGGGGGGGGGGGGGGGGGG) | dbSNP |
4 | g.931425_931426insCCCCCCCCCCCCACCACCCCCCCC | CA1058439252 | GAK | c.145+624_145+625insGTGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCCCCACCCCCCCC | CA1058439155 | GAK | c.145+624_145+625insGTGGGGGCGGGGGGGGGGGGGGGG (n.145+624_145+625insGTGGGGGCGGGGGGGGGGGGGGGG) n.178+624_178+625insGTGGGGGCGGGGGGGGGGGGGGGG c.117+652_117+653insGTGGGGGCGGGGGGGGGGGGGGGG (n.117+652_117+653insGTGGGGGCGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTGGGGGCGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTGGGGGCGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTGGGGGCGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTGGGGGCGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCCCCC | CA1058439094 | GAK | c.145+624_145+625insGGTTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439045 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439049 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439052 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2536760615 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCACCAACCCCCCCCCCCC | CA1058439264 | GAK | c.145+624_145+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCACCCACCCCCCCCCCCCCCCCC | CA2528739831 | GAK | c.145+624_145+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGTGGGTGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2558304622 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACCCCCCCC | CA1058439027 | GAK | c.145+624_145+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439053 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCCCCCCCCCCC | CA1058439087 | GAK | c.145+624_145+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACAACCCCACCCCCCCCCC | CA1058439283 | GAK | c.145+624_145+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGTGGGGTTGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCACACCCCCACCCCCCCCC | CA2563017543 | GAK | c.145+624_145+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTGGGGGTGTGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCCGCCCCACCCCCCCCC | CA1058439162 | GAK | c.145+624_145+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTGGGGCGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCACCCCCCCCCCCCCCC | CA1058439248 | GAK | c.145+624_145+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCACACCCAACCCCCCCCC | CA1058439083 | GAK | c.145+624_145+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTTGGGTGTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439032 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCCCACCCCCCCCC | CA1058439056 | GAK | c.145+624_145+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCAACCCCCCCCCCCCCCCC | CA2528741080 | GAK | c.145+624_145+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGTTGGTGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCACCACCCCCCCCCCCCCCCCC | CA1058439245 | GAK | c.145+624_145+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGTGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCCCCCCCCCCCCC | CA1058439086 | GAK | c.145+624_145+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGTTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCCCAACCCCCCCCC | CA1058439059 | GAK | c.145+624_145+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439129 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACAACCCCCCCCCCCCCCCCC | CA1058439269 | GAK | c.145+624_145+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGTTGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCAACACCCCCCCC | CA1058439092 | GAK | c.145+624_145+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGTGTTGGGGGTTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439167 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCACCACCACCCCCCCCCCCC | CA2570551577 | GAK | c.145+624_145+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGTGGTGGTGGTGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCACCCCACCCCCACCCGCCCCCCCCCCCCCCC | CA1058439291 | GAK | c.145+624_145+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGCGGGTGGGGGTGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACCCCCCCCCCCCCCCCCCCC | CA1058439029 | GAK | c.145+624_145+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCTACCCCCACCCCCCCCCCCCCCAGCCCCCCC | CA1058439160 | GAK | c.145+624_145+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insCTGGGGGGGGGGGGGGTGGGGGTAGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCTCCACCCCCACCACCCCCCCCCCCCCCCCCCCCCCCC | CA1058439142 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGTGGTGGGGGTGGAGGCGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCCAACCCCCCCCCCACCCGCCCCCCCCCCC | CA1058439063 | GAK | c.145+624_145+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGCGGGTGGGGGGGGGGTTGGGGTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCACCCCACCCCCCCCCCCCC | CA1058439240 | GAK | c.145+624_145+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGTGGGGTGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACTCCCCCCCACCCCTGTGCCCCCCCCC | CA2548033004 | GAK | c.145+624_145+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGCACAGGGGTGGGGGGGAGTGGGGGTGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2549018885 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA1058439165 | GAK | c.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+624_145+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+624_178+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+652_117+653insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+624_-89+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+624_-385+625insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425dup | CA917110318 | GAK | c.145+624dup (n.145+624dup) n.178+624dup c.117+652dup (n.117+652dup) c.-89+624dup (n.-89+624dup) c.-385+624dup (n.-385+624dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931424_931425dup | CA1058439179 | GAK | c.145+623_145+624dup (n.145+623_145+624dup) n.178+623_178+624dup c.117+651_117+652dup (n.117+651_117+652dup) c.-89+623_-89+624dup (n.-89+623_-89+624dup) c.-385+623_-385+624dup (n.-385+623_-385+624dup) | gnomAD v3 gnomAD v4 |
4 | g.931423_931425dup | CA917110319 | GAK | c.145+622_145+624dup (n.145+622_145+624dup) n.178+622_178+624dup c.117+650_117+652dup (n.117+650_117+652dup) c.-89+622_-89+624dup (n.-89+622_-89+624dup) c.-385+622_-385+624dup (n.-385+622_-385+624dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931422_931425dup | CA1058439175 | GAK | c.145+621_145+624dup (n.145+621_145+624dup) n.178+621_178+624dup c.117+649_117+652dup (n.117+649_117+652dup) c.-89+621_-89+624dup (n.-89+621_-89+624dup) c.-385+621_-385+624dup (n.-385+621_-385+624dup) | gnomAD v3 gnomAD v4 |
4 | g.931421_931425dup | CA1058439172 | GAK | c.145+620_145+624dup (n.145+620_145+624dup) n.178+620_178+624dup c.117+648_117+652dup (n.117+648_117+652dup) c.-89+620_-89+624dup (n.-89+620_-89+624dup) c.-385+620_-385+624dup (n.-385+620_-385+624dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931420_931425dup | CA800080274 | GAK | c.145+619_145+624dup (n.145+619_145+624dup) n.178+619_178+624dup c.117+647_117+652dup (n.117+647_117+652dup) c.-89+619_-89+624dup (n.-89+619_-89+624dup) c.-385+619_-385+624dup (n.-385+619_-385+624dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931419_931425dup | CA800080278 | GAK | c.145+618_145+624dup (n.145+618_145+624dup) n.178+618_178+624dup c.117+646_117+652dup (n.117+646_117+652dup) c.-89+618_-89+624dup (n.-89+618_-89+624dup) c.-385+618_-385+624dup (n.-385+618_-385+624dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425del | CA1058439111 | GAK | c.145+624del (n.145+624del) n.178+624del c.117+652del (n.117+652del) c.-89+624del (n.-89+624del) c.-385+624del (n.-385+624del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931419_931420insA | CA1058439317 | GAK | c.145+623_145+624insT (n.145+623_145+624insT) n.178+623_178+624insT c.117+651_117+652insT (n.117+651_117+652insT) c.-89+623_-89+624insT (n.-89+623_-89+624insT) c.-385+623_-385+624insT (n.-385+623_-385+624insT) | gnomAD v3 gnomAD v4 |
4 | g.931420C>A | CA1058439322 | GAK | c.145+623G>T (n.145+623G>T) n.178+623G>T c.117+651G>T (n.117+651G>T) c.-89+623G>T (n.-89+623G>T) c.-385+623G>T (n.-385+623G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931420C= | CA1433026969 | GAK | c.145+623G= (n.145+623G=) n.178+623G= c.117+651G= (n.117+651G=) c.-89+623G= (n.-89+623G=) c.-385+623G= (n.-385+623G=) | |
4 | g.931420C>G | CA1058439319 | GAK | c.145+623G>C (n.145+623G>C) n.178+623G>C c.117+651G>C (n.117+651G>C) c.-89+623G>C (n.-89+623G>C) c.-385+623G>C (n.-385+623G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931420C>T | CA2569314647 | GAK | c.145+623G>A (n.145+623G>A) n.178+623G>A c.117+651G>A (n.117+651G>A) c.-89+623G>A (n.-89+623G>A) c.-385+623G>A (n.-385+623G>A) | |
4 | g.931420_931421insAC | CA1058439335 | GAK | c.145+623_145+624insTG (n.145+623_145+624insTG) n.178+623_178+624insTG c.117+651_117+652insTG (n.117+651_117+652insTG) c.-89+623_-89+624insTG (n.-89+623_-89+624insTG) c.-385+623_-385+624insTG (n.-385+623_-385+624insTG) | gnomAD v3 gnomAD v4 |
4 | g.931421_931422insGGCC | CA2760123708 | GAK | c.145+623_145+624insCCGG (n.145+623_145+624insCCGG) n.178+623_178+624insCCGG c.117+651_117+652insCCGG (n.117+651_117+652insCCGG) c.-89+623_-89+624insCCGG (n.-89+623_-89+624insCCGG) c.-385+623_-385+624insCCGG (n.-385+623_-385+624insCCGG) | |
4 | g.931425_931426insCCCCCCCCGCCCCCC | CA1058439334 | GAK | c.145+623_145+624insCGGGGGGGGGGGGGG (n.145+623_145+624insCGGGGGGGGGGGGGG) n.178+623_178+624insCGGGGGGGGGGGGGG c.117+651_117+652insCGGGGGGGGGGGGGG (n.117+651_117+652insCGGGGGGGGGGGGGG) c.-89+623_-89+624insCGGGGGGGGGGGGGG (n.-89+623_-89+624insCGGGGGGGGGGGGGG) c.-385+623_-385+624insCGGGGGGGGGGGGGG (n.-385+623_-385+624insCGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931420_931421insA | CA1058439344 | GAK | c.145+622_145+623insT (n.145+622_145+623insT) n.178+622_178+623insT c.117+650_117+651insT (n.117+650_117+651insT) c.-89+622_-89+623insT (n.-89+622_-89+623insT) c.-385+622_-385+623insT (n.-385+622_-385+623insT) | gnomAD v3 gnomAD v4 |
4 | g.931421C>A | CA2567285523 | GAK | c.145+622G>T (n.145+622G>T) n.178+622G>T c.117+650G>T (n.117+650G>T) c.-89+622G>T (n.-89+622G>T) c.-385+622G>T (n.-385+622G>T) | |
4 | g.931425_931426insCCCCCCCCAGCCCCC | CA1058439348 | GAK | c.145+622_145+623insCTGGGGGGGGGGGGG (n.145+622_145+623insCTGGGGGGGGGGGGG) n.178+622_178+623insCTGGGGGGGGGGGGG c.117+650_117+651insCTGGGGGGGGGGGGG (n.117+650_117+651insCTGGGGGGGGGGGGG) c.-89+622_-89+623insCTGGGGGGGGGGGGG (n.-89+622_-89+623insCTGGGGGGGGGGGGG) c.-385+622_-385+623insCTGGGGGGGGGGGGG (n.-385+622_-385+623insCTGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCCCC | CA1058439340 | GAK | c.145+622_145+623insCGGGGGGGGGGGGGG (n.145+622_145+623insCGGGGGGGGGGGGGG) n.178+622_178+623insCGGGGGGGGGGGGGG c.117+650_117+651insCGGGGGGGGGGGGGG (n.117+650_117+651insCGGGGGGGGGGGGGG) c.-89+622_-89+623insCGGGGGGGGGGGGGG (n.-89+622_-89+623insCGGGGGGGGGGGGGG) c.-385+622_-385+623insCGGGGGGGGGGGGGG (n.-385+622_-385+623insCGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCGGCCCCC | CA1058439338 | GAK | c.145+622_145+623insCCGGGGGGGGGGGGG (n.145+622_145+623insCCGGGGGGGGGGGGG) n.178+622_178+623insCCGGGGGGGGGGGGG c.117+650_117+651insCCGGGGGGGGGGGGG (n.117+650_117+651insCCGGGGGGGGGGGGG) c.-89+622_-89+623insCCGGGGGGGGGGGGG (n.-89+622_-89+623insCCGGGGGGGGGGGGG) c.-385+622_-385+623insCCGGGGGGGGGGGGG (n.-385+622_-385+623insCCGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCACAACCCCC | CA2512043386 | GAK | c.145+622_145+623insTTGTGGGGGGGGGGGGGGGG (n.145+622_145+623insTTGTGGGGGGGGGGGGGGGG) n.178+622_178+623insTTGTGGGGGGGGGGGGGGGG c.117+650_117+651insTTGTGGGGGGGGGGGGGGGG (n.117+650_117+651insTTGTGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCACAACCCCC | CA1058439346 | GAK | c.145+622_145+623insTTGTGGGGGGGGGGGGGGGGG (n.145+622_145+623insTTGTGGGGGGGGGGGGGGGGG) n.178+622_178+623insTTGTGGGGGGGGGGGGGGGGG c.117+650_117+651insTTGTGGGGGGGGGGGGGGGGG (n.117+650_117+651insTTGTGGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACCACCCCC | CA2591009601 | GAK | c.145+622_145+623insTGGTGGGGGGGGGGGGGGGGG (n.145+622_145+623insTGGTGGGGGGGGGGGGGGGGG) n.178+622_178+623insTGGTGGGGGGGGGGGGGGGGG c.117+650_117+651insTGGTGGGGGGGGGGGGGGGGG (n.117+650_117+651insTGGTGGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTGGTGGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTGGTGGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTGGTGGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTGGTGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCC | CA1058439341 | GAK | c.145+622_145+623insTTGGGGGGGGGGGGGGGGGGG (n.145+622_145+623insTTGGGGGGGGGGGGGGGGGGG) n.178+622_178+623insTTGGGGGGGGGGGGGGGGGGG c.117+650_117+651insTTGGGGGGGGGGGGGGGGGGG (n.117+650_117+651insTTGGGGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTTGGGGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTTGGGGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTTGGGGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTTGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCC | CA1058439342 | GAK | c.145+622_145+623insTGGGGGGGGGGGGGGGGGGGG (n.145+622_145+623insTGGGGGGGGGGGGGGGGGGGG) n.178+622_178+623insTGGGGGGGGGGGGGGGGGGGG c.117+650_117+651insTGGGGGGGGGGGGGGGGGGGG (n.117+650_117+651insTGGGGGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTGGGGGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTGGGGGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTGGGGGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCACAACCCCC | CA549162181 | GAK | c.145+622_145+623insTTGTGGCGGGGGGGGGGGGGG (n.145+622_145+623insTTGTGGCGGGGGGGGGGGGGG) n.178+622_178+623insTTGTGGCGGGGGGGGGGGGGG c.117+650_117+651insTTGTGGCGGGGGGGGGGGGGG (n.117+650_117+651insTTGTGGCGGGGGGGGGGGGGG) c.-89+622_-89+623insTTGTGGCGGGGGGGGGGGGGG (n.-89+622_-89+623insTTGTGGCGGGGGGGGGGGGGG) c.-385+622_-385+623insTTGTGGCGGGGGGGGGGGGGG (n.-385+622_-385+623insTTGTGGCGGGGGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACAACCCCC | CA2558949795 | GAK | c.145+622_145+623insTTGTGGGGGGGGGGGGGGGGGGGG (n.145+622_145+623insTTGTGGGGGGGGGGGGGGGGGGGG) n.178+622_178+623insTTGTGGGGGGGGGGGGGGGGGGGG c.117+650_117+651insTTGTGGGGGGGGGGGGGGGGGGGG (n.117+650_117+651insTTGTGGGGGGGGGGGGGGGGGGGG) c.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGGGGGG (n.-89+622_-89+623insTTGTGGGGGGGGGGGGGGGGGGGG) c.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGGGGGG (n.-385+622_-385+623insTTGTGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931428_931429insACCCCCACC | CA2760123709 | GAK | c.145+622_145+623insTGGTGGGGG (n.145+622_145+623insTGGTGGGGG) n.178+622_178+623insTGGTGGGGG c.117+650_117+651insTGGTGGGGG (n.117+650_117+651insTGGTGGGGG) c.-89+622_-89+623insTGGTGGGGG (n.-89+622_-89+623insTGGTGGGGG) c.-385+622_-385+623insTGGTGGGGG (n.-385+622_-385+623insTGGTGGGGG) | |
4 | g.931422C>A | CA549162182 | GAK | c.145+621G>T (n.145+621G>T) n.178+621G>T c.117+649G>T (n.117+649G>T) c.-89+621G>T (n.-89+621G>T) c.-385+621G>T (n.-385+621G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931422C= | CA1433026970 | GAK | c.145+621G= (n.145+621G=) n.178+621G= c.117+649G= (n.117+649G=) c.-89+621G= (n.-89+621G=) c.-385+621G= (n.-385+621G=) | |
4 | g.931422C>T | CA800080292 | GAK | c.145+621G>A (n.145+621G>A) n.178+621G>A c.117+649G>A (n.117+649G>A) c.-89+621G>A (n.-89+621G>A) c.-385+621G>A (n.-385+621G>A) | dbSNP |
4 | g.931425_931426insCCCCCCCCCGCCCC | CA1058439358 | GAK | c.145+621_145+622insCGGGGGGGGGGGGG (n.145+621_145+622insCGGGGGGGGGGGGG) n.178+621_178+622insCGGGGGGGGGGGGG c.117+649_117+650insCGGGGGGGGGGGGG (n.117+649_117+650insCGGGGGGGGGGGGG) c.-89+621_-89+622insCGGGGGGGGGGGGG (n.-89+621_-89+622insCGGGGGGGGGGGGG) c.-385+621_-385+622insCGGGGGGGGGGGGG (n.-385+621_-385+622insCGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCC | CA1058439352 | GAK | c.145+621_145+622insTTGGGGGGGGGGGGGGGGGG (n.145+621_145+622insTTGGGGGGGGGGGGGGGGGG) n.178+621_178+622insTTGGGGGGGGGGGGGGGGGG c.117+649_117+650insTTGGGGGGGGGGGGGGGGGG (n.117+649_117+650insTTGGGGGGGGGGGGGGGGGG) c.-89+621_-89+622insTTGGGGGGGGGGGGGGGGGG (n.-89+621_-89+622insTTGGGGGGGGGGGGGGGGGG) c.-385+621_-385+622insTTGGGGGGGGGGGGGGGGGG (n.-385+621_-385+622insTTGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAAACCCC | CA1058439354 | GAK | c.145+621_145+622insTTTGGGGGGGGGGGGGGGGGG (n.145+621_145+622insTTTGGGGGGGGGGGGGGGGGG) n.178+621_178+622insTTTGGGGGGGGGGGGGGGGGG c.117+649_117+650insTTTGGGGGGGGGGGGGGGGGG (n.117+649_117+650insTTTGGGGGGGGGGGGGGGGGG) c.-89+621_-89+622insTTTGGGGGGGGGGGGGGGGGG (n.-89+621_-89+622insTTTGGGGGGGGGGGGGGGGGG) c.-385+621_-385+622insTTTGGGGGGGGGGGGGGGGGG (n.-385+621_-385+622insTTTGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCC | CA1058439356 | GAK | c.145+621_145+622insTTGGGGGGGGGGGGGGGGGGG (n.145+621_145+622insTTGGGGGGGGGGGGGGGGGGG) n.178+621_178+622insTTGGGGGGGGGGGGGGGGGGG c.117+649_117+650insTTGGGGGGGGGGGGGGGGGGG (n.117+649_117+650insTTGGGGGGGGGGGGGGGGGGG) c.-89+621_-89+622insTTGGGGGGGGGGGGGGGGGGG (n.-89+621_-89+622insTTGGGGGGGGGGGGGGGGGGG) c.-385+621_-385+622insTTGGGGGGGGGGGGGGGGGGG (n.-385+621_-385+622insTTGGGGGGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCACACCCC | CA2503025471 | GAK | c.145+621_145+622insTGTGGGGGGGGGGGGGGGGGGGGG (n.145+621_145+622insTGTGGGGGGGGGGGGGGGGGGGGG) n.178+621_178+622insTGTGGGGGGGGGGGGGGGGGGGGG c.117+649_117+650insTGTGGGGGGGGGGGGGGGGGGGGG (n.117+649_117+650insTGTGGGGGGGGGGGGGGGGGGGGG) c.-89+621_-89+622insTGTGGGGGGGGGGGGGGGGGGGGG (n.-89+621_-89+622insTGTGGGGGGGGGGGGGGGGGGGGG) c.-385+621_-385+622insTGTGGGGGGGGGGGGGGGGGGGGG (n.-385+621_-385+622insTGTGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931432_931433insCCCCCACCACCCACCCCACCCCCC | CA1058439351 | GAK | c.145+621_145+622insTGGGTGGTGGGGGGGGGGGTGGGG (n.145+621_145+622insTGGGTGGTGGGGGGGGGGGTGGGG) n.178+621_178+622insTGGGTGGTGGGGGGGGGGGTGGGG c.117+649_117+650insTGGGTGGTGGGGGGGGGGGTGGGG (n.117+649_117+650insTGGGTGGTGGGGGGGGGGGTGGGG) c.-89+621_-89+622insTGGGTGGTGGGGGGGGGGGTGGGG (n.-89+621_-89+622insTGGGTGGTGGGGGGGGGGGTGGGG) c.-385+621_-385+622insTGGGTGGTGGGGGGGGGGGTGGGG (n.-385+621_-385+622insTGGGTGGTGGGGGGGGGGGTGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCCCCACACCCCCCCACCCACCC | CA2509531221 | GAK | c.145+620_145+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+620_145+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+620_178+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+648_117+649insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+648_117+649insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+620_-89+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+620_-89+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+620_-385+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+620_-385+621insTGGGTGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931424C>A | CA2507387948 | GAK | c.145+619G>T (n.145+619G>T) n.178+619G>T c.117+647G>T (n.117+647G>T) c.-89+619G>T (n.-89+619G>T) c.-385+619G>T (n.-385+619G>T) | |
4 | g.931424C= | CA1433026971 | GAK | c.145+619G= (n.145+619G=) n.178+619G= c.117+647G= (n.117+647G=) c.-89+619G= (n.-89+619G=) c.-385+619G= (n.-385+619G=) | |
4 | g.931424C>T | CA1058439369 | GAK | c.145+619G>A (n.145+619G>A) n.178+619G>A c.117+647G>A (n.117+647G>A) c.-89+619G>A (n.-89+619G>A) c.-385+619G>A (n.-385+619G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCACC | CA1058439373 | GAK | c.145+619_145+620insTGGGGGGGGGGGGGG (n.145+619_145+620insTGGGGGGGGGGGGGG) n.178+619_178+620insTGGGGGGGGGGGGGG c.117+647_117+648insTGGGGGGGGGGGGGG (n.117+647_117+648insTGGGGGGGGGGGGGG) c.-89+619_-89+620insTGGGGGGGGGGGGGG (n.-89+619_-89+620insTGGGGGGGGGGGGGG) c.-385+619_-385+620insTGGGGGGGGGGGGGG (n.-385+619_-385+620insTGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCACCCCACC | CA1058439374 | GAK | c.145+619_145+620insTGGGGTGGGGGGGGGG (n.145+619_145+620insTGGGGTGGGGGGGGGG) n.178+619_178+620insTGGGGTGGGGGGGGGG c.117+647_117+648insTGGGGTGGGGGGGGGG (n.117+647_117+648insTGGGGTGGGGGGGGGG) c.-89+619_-89+620insTGGGGTGGGGGGGGGG (n.-89+619_-89+620insTGGGGTGGGGGGGGGG) c.-385+619_-385+620insTGGGGTGGGGGGGGGG (n.-385+619_-385+620insTGGGGTGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCAACCCCCACC | CA1058439378 | GAK | c.145+619_145+620insTGGGGGTTGGGGGGGGGGGGGGGG (n.145+619_145+620insTGGGGGTTGGGGGGGGGGGGGGGG) n.178+619_178+620insTGGGGGTTGGGGGGGGGGGGGGGG c.117+647_117+648insTGGGGGTTGGGGGGGGGGGGGGGG (n.117+647_117+648insTGGGGGTTGGGGGGGGGGGGGGGG) c.-89+619_-89+620insTGGGGGTTGGGGGGGGGGGGGGGG (n.-89+619_-89+620insTGGGGGTTGGGGGGGGGGGGGGGG) c.-385+619_-385+620insTGGGGGTTGGGGGGGGGGGGGGGG (n.-385+619_-385+620insTGGGGGTTGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCAACCCCACC | CA1058439372 | GAK | c.145+619_145+620insTGGGGTTGGGGGGGGGGGGGGGGG (n.145+619_145+620insTGGGGTTGGGGGGGGGGGGGGGGG) n.178+619_178+620insTGGGGTTGGGGGGGGGGGGGGGGG c.117+647_117+648insTGGGGTTGGGGGGGGGGGGGGGGG (n.117+647_117+648insTGGGGTTGGGGGGGGGGGGGGGGG) c.-89+619_-89+620insTGGGGTTGGGGGGGGGGGGGGGGG (n.-89+619_-89+620insTGGGGTTGGGGGGGGGGGGGGGGG) c.-385+619_-385+620insTGGGGTTGGGGGGGGGGGGGGGGG (n.-385+619_-385+620insTGGGGTTGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCACC | CA1058439371 | GAK | c.145+619_145+620insTGGGGGTGGGGGGGGGGGGGGGGG (n.145+619_145+620insTGGGGGTGGGGGGGGGGGGGGGGG) n.178+619_178+620insTGGGGGTGGGGGGGGGGGGGGGGG c.117+647_117+648insTGGGGGTGGGGGGGGGGGGGGGGG (n.117+647_117+648insTGGGGGTGGGGGGGGGGGGGGGGG) c.-89+619_-89+620insTGGGGGTGGGGGGGGGGGGGGGGG (n.-89+619_-89+620insTGGGGGTGGGGGGGGGGGGGGGGG) c.-385+619_-385+620insTGGGGGTGGGGGGGGGGGGGGGGG (n.-385+619_-385+620insTGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCCCCCCCAACC | CA2591009603 | GAK | c.145+619_145+620insTTGGGGGGGGGGGGGGGGGGGGGG (n.145+619_145+620insTTGGGGGGGGGGGGGGGGGGGGGG) n.178+619_178+620insTTGGGGGGGGGGGGGGGGGGGGGG c.117+647_117+648insTTGGGGGGGGGGGGGGGGGGGGGG (n.117+647_117+648insTTGGGGGGGGGGGGGGGGGGGGGG) c.-89+619_-89+620insTTGGGGGGGGGGGGGGGGGGGGGG (n.-89+619_-89+620insTTGGGGGGGGGGGGGGGGGGGGGG) c.-385+619_-385+620insTTGGGGGGGGGGGGGGGGGGGGGG (n.-385+619_-385+620insTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCGCCACAACCCCCACC | CA2542079732 | GAK | c.145+619_145+620insTGGGGGTTGTGGCGGGGGGGGGGG (n.145+619_145+620insTGGGGGTTGTGGCGGGGGGGGGGG) n.178+619_178+620insTGGGGGTTGTGGCGGGGGGGGGGG c.117+647_117+648insTGGGGGTTGTGGCGGGGGGGGGGG (n.117+647_117+648insTGGGGGTTGTGGCGGGGGGGGGGG) c.-89+619_-89+620insTGGGGGTTGTGGCGGGGGGGGGGG (n.-89+619_-89+620insTGGGGGTTGTGGCGGGGGGGGGGG) c.-385+619_-385+620insTGGGGGTTGTGGCGGGGGGGGGGG (n.-385+619_-385+620insTGGGGGTTGTGGCGGGGGGGGGGG) | |
4 | g.931432_931433insCCCCCCCCACCCCCACCACCCCCC | CA1058439376 | GAK | c.145+619_145+620insTGGGGGTGGGGGGGGGGGGGGTGG (n.145+619_145+620insTGGGGGTGGGGGGGGGGGGGGTGG) n.178+619_178+620insTGGGGGTGGGGGGGGGGGGGGTGG c.117+647_117+648insTGGGGGTGGGGGGGGGGGGGGTGG (n.117+647_117+648insTGGGGGTGGGGGGGGGGGGGGTGG) c.-89+619_-89+620insTGGGGGTGGGGGGGGGGGGGGTGG (n.-89+619_-89+620insTGGGGGTGGGGGGGGGGGGGGTGG) c.-385+619_-385+620insTGGGGGTGGGGGGGGGGGGGGTGG (n.-385+619_-385+620insTGGGGGTGGGGGGGGGGGGGGTGG) | gnomAD v3 gnomAD v4 |
4 | g.931425C>A | CA1433026974 | GAK | c.145+618G>T (n.145+618G>T) n.178+618G>T c.117+646G>T (n.117+646G>T) c.-89+618G>T (n.-89+618G>T) c.-385+618G>T (n.-385+618G>T) | dbSNP |
4 | g.931425C= | CA1433026972 | GAK | c.145+618G= (n.145+618G=) n.178+618G= c.117+646G= (n.117+646G=) c.-89+618G= (n.-89+618G=) c.-385+618G= (n.-385+618G=) | |
4 | g.931425C>T | CA1433026973 | GAK | c.145+618G>A (n.145+618G>A) n.178+618G>A c.117+646G>A (n.117+646G>A) c.-89+618G>A (n.-89+618G>A) c.-385+618G>A (n.-385+618G>A) | dbSNP |
4 | g.931426_931427del | CA1058439380 | GAK | c.145+617_145+618del (n.145+617_145+618del) n.178+617_178+618del c.117+645_117+646del (n.117+645_117+646del) c.-89+617_-89+618del (n.-89+617_-89+618del) c.-385+617_-385+618del (n.-385+617_-385+618del) | gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCA | CA549162183 | GAK | c.145+617_145+618insTGGGGGGGGGGGGGG (n.145+617_145+618insTGGGGGGGGGGGGGG) n.178+617_178+618insTGGGGGGGGGGGGGG c.117+645_117+646insTGGGGGGGGGGGGGG (n.117+645_117+646insTGGGGGGGGGGGGGG) c.-89+617_-89+618insTGGGGGGGGGGGGGG (n.-89+617_-89+618insTGGGGGGGGGGGGGG) c.-385+617_-385+618insTGGGGGGGGGGGGGG (n.-385+617_-385+618insTGGGGGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931425_931426insCCCCCCCCCCCCCCT | CA2760123710 | GAK | c.145+617_145+618insAGGGGGGGGGGGGGG (n.145+617_145+618insAGGGGGGGGGGGGGG) n.178+617_178+618insAGGGGGGGGGGGGGG c.117+645_117+646insAGGGGGGGGGGGGGG (n.117+645_117+646insAGGGGGGGGGGGGGG) c.-89+617_-89+618insAGGGGGGGGGGGGGG (n.-89+617_-89+618insAGGGGGGGGGGGGGG) c.-385+617_-385+618insAGGGGGGGGGGGGGG (n.-385+617_-385+618insAGGGGGGGGGGGGGG) | |
4 | g.931425_931426insCCCCCCCCCCCCCCCACCCCCCCA | CA917110320 | GAK | c.145+617_145+618insTGGGGGGGTGGGGGGGGGGGGGGG (n.145+617_145+618insTGGGGGGGTGGGGGGGGGGGGGGG) n.178+617_178+618insTGGGGGGGTGGGGGGGGGGGGGGG c.117+645_117+646insTGGGGGGGTGGGGGGGGGGGGGGG (n.117+645_117+646insTGGGGGGGTGGGGGGGGGGGGGGG) c.-89+617_-89+618insTGGGGGGGTGGGGGGGGGGGGGGG (n.-89+617_-89+618insTGGGGGGGTGGGGGGGGGGGGGGG) c.-385+617_-385+618insTGGGGGGGTGGGGGGGGGGGGGGG (n.-385+617_-385+618insTGGGGGGGTGGGGGGGGGGGGGGG) | dbSNP |
4 | g.931426del | CA1058439384 | GAK | c.145+617del (n.145+617del) n.178+617del c.117+645del (n.117+645del) c.-89+617del (n.-89+617del) c.-385+617del (n.-385+617del) | gnomAD v3 gnomAD v4 |
4 | g.931426A= | CA1433026975 | GAK | c.145+617T= (n.145+617T=) n.178+617T= c.117+645T= (n.117+645T=) c.-89+617T= (n.-89+617T=) c.-385+617T= (n.-385+617T=) | |
4 | g.931426A>C | CA91135423 | GAK | c.145+617T>G (n.145+617T>G) n.178+617T>G c.117+645T>G (n.117+645T>G) c.-89+617T>G (n.-89+617T>G) c.-385+617T>G (n.-385+617T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931426A>G | CA1058439389 | GAK | c.145+617T>C (n.145+617T>C) n.178+617T>C c.117+645T>C (n.117+645T>C) c.-89+617T>C (n.-89+617T>C) c.-385+617T>C (n.-385+617T>C) | gnomAD v3 gnomAD v4 |
4 | g.931426A>T | CA1058439388 | GAK | c.145+617T>A (n.145+617T>A) n.178+617T>A c.117+645T>A (n.117+645T>A) c.-89+617T>A (n.-89+617T>A) c.-385+617T>A (n.-385+617T>A) | gnomAD v3 gnomAD v4 |
4 | g.931426_931427insACC | CA2542615522 | GAK | c.145+616_145+617insGGT (n.145+616_145+617insGGT) n.178+616_178+617insGGT c.117+644_117+645insGGT (n.117+644_117+645insGGT) c.-89+616_-89+617insGGT (n.-89+616_-89+617insGGT) c.-385+616_-385+617insGGT (n.-385+616_-385+617insGGT) | |
4 | g.931427C>A | CA91135425 | GAK | c.145+616G>T (n.145+616G>T) n.178+616G>T c.117+644G>T (n.117+644G>T) c.-89+616G>T (n.-89+616G>T) c.-385+616G>T (n.-385+616G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931427C= | CA1433026976 | GAK | c.145+616G= (n.145+616G=) n.178+616G= c.117+644G= (n.117+644G=) c.-89+616G= (n.-89+616G=) c.-385+616G= (n.-385+616G=) | |
4 | g.931427C>T | CA91135427 | GAK | c.145+616G>A (n.145+616G>A) n.178+616G>A c.117+644G>A (n.117+644G>A) c.-89+616G>A (n.-89+616G>A) c.-385+616G>A (n.-385+616G>A) | dbSNP |
4 | g.931430_931431insACCCCCCCCC | CA1058439410 | GAK | c.145+616_145+617insGGGGGTGGGG (n.145+616_145+617insGGGGGTGGGG) n.178+616_178+617insGGGGGTGGGG c.117+644_117+645insGGGGGTGGGG (n.117+644_117+645insGGGGGTGGGG) c.-89+616_-89+617insGGGGGTGGGG (n.-89+616_-89+617insGGGGGTGGGG) c.-385+616_-385+617insGGGGGTGGGG (n.-385+616_-385+617insGGGGGTGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931431_931432insACCCCCCCC | CA1058439406 | GAK | c.145+616_145+617insGGGTGGGGG (n.145+616_145+617insGGGTGGGGG) n.178+616_178+617insGGGTGGGGG c.117+644_117+645insGGGTGGGGG (n.117+644_117+645insGGGTGGGGG) c.-89+616_-89+617insGGGTGGGGG (n.-89+616_-89+617insGGGTGGGGG) c.-385+616_-385+617insGGGTGGGGG (n.-385+616_-385+617insGGGTGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCC | CA1058439404 | GAK | c.145+616_145+617insGGGGGGGG (n.145+616_145+617insGGGGGGGG) n.178+616_178+617insGGGGGGGG c.117+644_117+645insGGGGGGGG (n.117+644_117+645insGGGGGGGG) c.-89+616_-89+617insGGGGGGGG (n.-89+616_-89+617insGGGGGGGG) c.-385+616_-385+617insGGGGGGGG (n.-385+616_-385+617insGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCTCCCCCC | CA1058439402 | GAK | c.145+616_145+617insAGGGGGGG (n.145+616_145+617insAGGGGGGG) n.178+616_178+617insAGGGGGGG c.117+644_117+645insAGGGGGGG (n.117+644_117+645insAGGGGGGG) c.-89+616_-89+617insAGGGGGGG (n.-89+616_-89+617insAGGGGGGG) c.-385+616_-385+617insAGGGGGGG (n.-385+616_-385+617insAGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCC | CA1058439398 | GAK | c.145+616_145+617insGGGGGGGGG (n.145+616_145+617insGGGGGGGGG) n.178+616_178+617insGGGGGGGGG c.117+644_117+645insGGGGGGGGG (n.117+644_117+645insGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCC | CA1058439427 | GAK | c.145+616_145+617insGGGGGGGGGG (n.145+616_145+617insGGGGGGGGGG) n.178+616_178+617insGGGGGGGGGG c.117+644_117+645insGGGGGGGGGG (n.117+644_117+645insGGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCCC | CA1058439399 | GAK | c.145+616_145+617insGGGGGGGGGGG (n.145+616_145+617insGGGGGGGGGGG) n.178+616_178+617insGGGGGGGGGGG c.117+644_117+645insGGGGGGGGGGG (n.117+644_117+645insGGGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCCCCC | CA1058439400 | GAK | c.145+616_145+617insGGGGGGGGGGGGG (n.145+616_145+617insGGGGGGGGGGGGG) n.178+616_178+617insGGGGGGGGGGGGG c.117+644_117+645insGGGGGGGGGGGGG (n.117+644_117+645insGGGGGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCCCCCCC | CA2541274386 | GAK | c.145+616_145+617insGGGGGGGGGGGGGGG (n.145+616_145+617insGGGGGGGGGGGGGGG) n.178+616_178+617insGGGGGGGGGGGGGGG c.117+644_117+645insGGGGGGGGGGGGGGG (n.117+644_117+645insGGGGGGGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGGGGGGGG) | |
4 | g.931432_931433insCCCCCCCCCCCCCCCC | CA1058439401 | GAK | c.145+616_145+617insGGGGGGGGGGGGGGGG (n.145+616_145+617insGGGGGGGGGGGGGGGG) n.178+616_178+617insGGGGGGGGGGGGGGGG c.117+644_117+645insGGGGGGGGGGGGGGGG (n.117+644_117+645insGGGGGGGGGGGGGGGG) c.-89+616_-89+617insGGGGGGGGGGGGGGGG (n.-89+616_-89+617insGGGGGGGGGGGGGGGG) c.-385+616_-385+617insGGGGGGGGGGGGGGGG (n.-385+616_-385+617insGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432dup | CA1058439424 | GAK | c.145+616dup (n.145+616dup) n.178+616dup c.117+644dup (n.117+644dup) c.-89+616dup (n.-89+616dup) c.-385+616dup (n.-385+616dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931431_931432dup | CA1058439421 | GAK | c.145+615_145+616dup (n.145+615_145+616dup) n.178+615_178+616dup c.117+643_117+644dup (n.117+643_117+644dup) c.-89+615_-89+616dup (n.-89+615_-89+616dup) c.-385+615_-385+616dup (n.-385+615_-385+616dup) | gnomAD v3 gnomAD v4 |
4 | g.931430_931432dup | CA1058439413 | GAK | c.145+614_145+616dup (n.145+614_145+616dup) n.178+614_178+616dup c.117+642_117+644dup (n.117+642_117+644dup) c.-89+614_-89+616dup (n.-89+614_-89+616dup) c.-385+614_-385+616dup (n.-385+614_-385+616dup) | gnomAD v3 gnomAD v4 |
4 | g.931429_931432dup | CA1058439411 | GAK | c.145+613_145+616dup (n.145+613_145+616dup) n.178+613_178+616dup c.117+641_117+644dup (n.117+641_117+644dup) c.-89+613_-89+616dup (n.-89+613_-89+616dup) c.-385+613_-385+616dup (n.-385+613_-385+616dup) | gnomAD v3 gnomAD v4 |
4 | g.931428_931432dup | CA1058439407 | GAK | c.145+612_145+616dup (n.145+612_145+616dup) n.178+612_178+616dup c.117+640_117+644dup (n.117+640_117+644dup) c.-89+612_-89+616dup (n.-89+612_-89+616dup) c.-385+612_-385+616dup (n.-385+612_-385+616dup) | gnomAD v3 gnomAD v4 |
4 | g.931427_931432dup | CA1058439405 | GAK | c.145+611_145+616dup (n.145+611_145+616dup) n.178+611_178+616dup c.117+639_117+644dup (n.117+639_117+644dup) c.-89+611_-89+616dup (n.-89+611_-89+616dup) c.-385+611_-385+616dup (n.-385+611_-385+616dup) | gnomAD v3 gnomAD v4 |
4 | g.931432del | CA1058439403 | GAK | c.145+616del (n.145+616del) n.178+616del c.117+644del (n.117+644del) c.-89+616del (n.-89+616del) c.-385+616del (n.-385+616del) | gnomAD v3 gnomAD v4 |
4 | g.931431_931432del | CA2530084477 | GAK | c.145+615_145+616del (n.145+615_145+616del) n.178+615_178+616del c.117+643_117+644del (n.117+643_117+644del) c.-89+615_-89+616del (n.-89+615_-89+616del) c.-385+615_-385+616del (n.-385+615_-385+616del) | |
4 | g.931428C>A | CA91135429 | GAK | c.145+615G>T (n.145+615G>T) n.178+615G>T c.117+643G>T (n.117+643G>T) c.-89+615G>T (n.-89+615G>T) c.-385+615G>T (n.-385+615G>T) | dbSNP |
4 | g.931428C= | CA1433026978 | GAK | c.145+615G= (n.145+615G=) n.178+615G= c.117+643G= (n.117+643G=) c.-89+615G= (n.-89+615G=) c.-385+615G= (n.-385+615G=) | |
4 | g.931428C>G | CA1433026977 | GAK | c.145+615G>C (n.145+615G>C) n.178+615G>C c.117+643G>C (n.117+643G>C) c.-89+615G>C (n.-89+615G>C) c.-385+615G>C (n.-385+615G>C) | dbSNP |
4 | g.931432_931433insCCCCCCCCACCCCC | CA917110321 | GAK | c.145+615_145+616insTGGGGGGGGGGGGG (n.145+615_145+616insTGGGGGGGGGGGGG) n.178+615_178+616insTGGGGGGGGGGGGG c.117+643_117+644insTGGGGGGGGGGGGG (n.117+643_117+644insTGGGGGGGGGGGGG) c.-89+615_-89+616insTGGGGGGGGGGGGG (n.-89+615_-89+616insTGGGGGGGGGGGGG) c.-385+615_-385+616insTGGGGGGGGGGGGG (n.-385+615_-385+616insTGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931429C>A | CA800080299 | GAK | c.145+614G>T (n.145+614G>T) n.178+614G>T c.117+642G>T (n.117+642G>T) c.-89+614G>T (n.-89+614G>T) c.-385+614G>T (n.-385+614G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931429C= | CA1433026979 | GAK | c.145+614G= (n.145+614G=) n.178+614G= c.117+642G= (n.117+642G=) c.-89+614G= (n.-89+614G=) c.-385+614G= (n.-385+614G=) | |
4 | g.931429C>T | CA91135430 | GAK | c.145+614G>A (n.145+614G>A) n.178+614G>A c.117+642G>A (n.117+642G>A) c.-89+614G>A (n.-89+614G>A) c.-385+614G>A (n.-385+614G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931430C= | CA1433026980 | GAK | c.145+613G= (n.145+613G=) n.178+613G= c.117+641G= (n.117+641G=) c.-89+613G= (n.-89+613G=) c.-385+613G= (n.-385+613G=) | |
4 | g.931430C>G | CA549162188 | GAK | c.145+613G>C (n.145+613G>C) n.178+613G>C c.117+641G>C (n.117+641G>C) c.-89+613G>C (n.-89+613G>C) c.-385+613G>C (n.-385+613G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931430C>T | CA1433026981 | GAK | c.145+613G>A (n.145+613G>A) n.178+613G>A c.117+641G>A (n.117+641G>A) c.-89+613G>A (n.-89+613G>A) c.-385+613G>A (n.-385+613G>A) | dbSNP |
4 | g.931432_931433insCCCCCCCCACCC | CA1058439431 | GAK | c.145+613_145+614insTGGGGGGGGGGG (n.145+613_145+614insTGGGGGGGGGGG) n.178+613_178+614insTGGGGGGGGGGG c.117+641_117+642insTGGGGGGGGGGG (n.117+641_117+642insTGGGGGGGGGGG) c.-89+613_-89+614insTGGGGGGGGGGG (n.-89+613_-89+614insTGGGGGGGGGGG) c.-385+613_-385+614insTGGGGGGGGGGG (n.-385+613_-385+614insTGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCAACCC | CA2538973247 | GAK | c.145+613_145+614insTTGGGGGGGGGGG (n.145+613_145+614insTTGGGGGGGGGGG) n.178+613_178+614insTTGGGGGGGGGGG c.117+641_117+642insTTGGGGGGGGGGG (n.117+641_117+642insTTGGGGGGGGGGG) c.-89+613_-89+614insTTGGGGGGGGGGG (n.-89+613_-89+614insTTGGGGGGGGGGG) c.-385+613_-385+614insTTGGGGGGGGGGG (n.-385+613_-385+614insTTGGGGGGGGGGG) | |
4 | g.931431C= | CA1433026982 | GAK | c.145+612G= (n.145+612G=) n.178+612G= c.117+640G= (n.117+640G=) c.-89+612G= (n.-89+612G=) c.-385+612G= (n.-385+612G=) | |
4 | g.931431_931432insAC | CA917110323 | GAK | c.145+612_145+613insTG (n.145+612_145+613insTG) n.178+612_178+613insTG c.117+640_117+641insTG (n.117+640_117+641insTG) c.-89+612_-89+613insTG (n.-89+612_-89+613insTG) c.-385+612_-385+613insTG (n.-385+612_-385+613insTG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCGCC | CA1058439437 | GAK | c.145+612_145+613insCGGGGGG (n.145+612_145+613insCGGGGGG) n.178+612_178+613insCGGGGGG c.117+640_117+641insCGGGGGG (n.117+640_117+641insCGGGGGG) c.-89+612_-89+613insCGGGGGG (n.-89+612_-89+613insCGGGGGG) c.-385+612_-385+613insCGGGGGG (n.-385+612_-385+613insCGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCACC | CA1058439436 | GAK | c.145+612_145+613insTGGGGGGG (n.145+612_145+613insTGGGGGGG) n.178+612_178+613insTGGGGGGG c.117+640_117+641insTGGGGGGG (n.117+640_117+641insTGGGGGGG) c.-89+612_-89+613insTGGGGGGG (n.-89+612_-89+613insTGGGGGGG) c.-385+612_-385+613insTGGGGGGG (n.-385+612_-385+613insTGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCACC | CA549162189 | GAK | c.145+612_145+613insTGGGGGGGGGG (n.145+612_145+613insTGGGGGGGGGG) n.178+612_178+613insTGGGGGGGGGG c.117+640_117+641insTGGGGGGGGGG (n.117+640_117+641insTGGGGGGGGGG) c.-89+612_-89+613insTGGGGGGGGGG (n.-89+612_-89+613insTGGGGGGGGGG) c.-385+612_-385+613insTGGGGGGGGGG (n.-385+612_-385+613insTGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCCCCCCACC | CA2519067329 | GAK | c.145+612_145+613insTGGGGGGGGGGGGGGGG (n.145+612_145+613insTGGGGGGGGGGGGGGGG) n.178+612_178+613insTGGGGGGGGGGGGGGGG c.117+640_117+641insTGGGGGGGGGGGGGGGG (n.117+640_117+641insTGGGGGGGGGGGGGGGG) c.-89+612_-89+613insTGGGGGGGGGGGGGGGG (n.-89+612_-89+613insTGGGGGGGGGGGGGGGG) c.-385+612_-385+613insTGGGGGGGGGGGGGGGG (n.-385+612_-385+613insTGGGGGGGGGGGGGGGG) | |
4 | g.931432_931433insCCCCCCCCCCCCCCCCCCCCCCCCCCACC | CA2542616135 | GAK | c.145+612_145+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.145+612_145+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.178+612_178+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.117+640_117+641insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.117+640_117+641insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-89+612_-89+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-89+612_-89+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-385+612_-385+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-385+612_-385+613insTGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
4 | g.931432C>A | CA91135433 | GAK | c.145+611G>T (n.145+611G>T) n.178+611G>T c.117+639G>T (n.117+639G>T) c.-89+611G>T (n.-89+611G>T) c.-385+611G>T (n.-385+611G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931432C= | CA1433026983 | GAK | c.145+611G= (n.145+611G=) n.178+611G= c.117+639G= (n.117+639G=) c.-89+611G= (n.-89+611G=) c.-385+611G= (n.-385+611G=) | |
4 | g.931432C>G | CA800080309 | GAK | c.145+611G>C (n.145+611G>C) n.178+611G>C c.117+639G>C (n.117+639G>C) c.-89+611G>C (n.-89+611G>C) c.-385+611G>C (n.-385+611G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931432C>T | CA91135434 | GAK | c.145+611G>A (n.145+611G>A) n.178+611G>A c.117+639G>A (n.117+639G>A) c.-89+611G>A (n.-89+611G>A) c.-385+611G>A (n.-385+611G>A) | dbSNP |
4 | g.931432_931433insCCCCCCAC | CA1058439441 | GAK | c.145+611_145+612insTGGGGGGG (n.145+611_145+612insTGGGGGGG) n.178+611_178+612insTGGGGGGG c.117+639_117+640insTGGGGGGG (n.117+639_117+640insTGGGGGGG) c.-89+611_-89+612insTGGGGGGG (n.-89+611_-89+612insTGGGGGGG) c.-385+611_-385+612insTGGGGGGG (n.-385+611_-385+612insTGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCAC | CA1058439443 | GAK | c.145+611_145+612insTGGGGGGGG (n.145+611_145+612insTGGGGGGGG) n.178+611_178+612insTGGGGGGGG c.117+639_117+640insTGGGGGGGG (n.117+639_117+640insTGGGGGGGG) c.-89+611_-89+612insTGGGGGGGG (n.-89+611_-89+612insTGGGGGGGG) c.-385+611_-385+612insTGGGGGGGG (n.-385+611_-385+612insTGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCACAC | CA1058439442 | GAK | c.145+611_145+612insTGTGGGGGGG (n.145+611_145+612insTGTGGGGGGG) n.178+611_178+612insTGTGGGGGGG c.117+639_117+640insTGTGGGGGGG (n.117+639_117+640insTGTGGGGGGG) c.-89+611_-89+612insTGTGGGGGGG (n.-89+611_-89+612insTGTGGGGGGG) c.-385+611_-385+612insTGTGGGGGGG (n.-385+611_-385+612insTGTGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCAC | CA914896736 | GAK | c.145+611_145+612insTGGGGGGGGG (n.145+611_145+612insTGGGGGGGGG) n.178+611_178+612insTGGGGGGGGG c.117+639_117+640insTGGGGGGGGG (n.117+639_117+640insTGGGGGGGGG) c.-89+611_-89+612insTGGGGGGGGG (n.-89+611_-89+612insTGGGGGGGGG) c.-385+611_-385+612insTGGGGGGGGG (n.-385+611_-385+612insTGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCCAC | CA1058439444 | GAK | c.145+611_145+612insTGGGGGGGGGG (n.145+611_145+612insTGGGGGGGGGG) n.178+611_178+612insTGGGGGGGGGG c.117+639_117+640insTGGGGGGGGGG (n.117+639_117+640insTGGGGGGGGGG) c.-89+611_-89+612insTGGGGGGGGGG (n.-89+611_-89+612insTGGGGGGGGGG) c.-385+611_-385+612insTGGGGGGGGGG (n.-385+611_-385+612insTGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCA | CA2766296961 | GAK | c.145+610_145+611insTG (n.145+610_145+611insTG) n.178+610_178+611insTG c.117+638_117+639insTG (n.117+638_117+639insTG) c.-89+610_-89+611insTG (n.-89+610_-89+611insTG) c.-385+610_-385+611insTG (n.-385+610_-385+611insTG) | |
4 | g.931432_931433insCCCCCCA | CA2559222868 | GAK | c.145+610_145+611insTGGGGGG (n.145+610_145+611insTGGGGGG) n.178+610_178+611insTGGGGGG c.117+638_117+639insTGGGGGG (n.117+638_117+639insTGGGGGG) c.-89+610_-89+611insTGGGGGG (n.-89+610_-89+611insTGGGGGG) c.-385+610_-385+611insTGGGGGG (n.-385+610_-385+611insTGGGGGG) | |
4 | g.931432_931433insCCCCCCCA | CA549162191 | GAK | c.145+610_145+611insTGGGGGGG (n.145+610_145+611insTGGGGGGG) n.178+610_178+611insTGGGGGGG c.117+638_117+639insTGGGGGGG (n.117+638_117+639insTGGGGGGG) c.-89+610_-89+611insTGGGGGGG (n.-89+610_-89+611insTGGGGGGG) c.-385+610_-385+611insTGGGGGGG (n.-385+610_-385+611insTGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931432_931433insCCCCCCCCA | CA1058439455 | GAK | c.145+610_145+611insTGGGGGGGG (n.145+610_145+611insTGGGGGGGG) n.178+610_178+611insTGGGGGGGG c.117+638_117+639insTGGGGGGGG (n.117+638_117+639insTGGGGGGGG) c.-89+610_-89+611insTGGGGGGGG (n.-89+610_-89+611insTGGGGGGGG) c.-385+610_-385+611insTGGGGGGGG (n.-385+610_-385+611insTGGGGGGGG) | gnomAD v3 gnomAD v4 |
4 | g.931433A= | CA1433026984 | GAK | c.145+610T= (n.145+610T=) n.178+610T= c.117+638T= (n.117+638T=) c.-89+610T= (n.-89+610T=) c.-385+610T= (n.-385+610T=) | |
4 | g.931433A>C | CA91135437 | GAK | c.145+610T>G (n.145+610T>G) n.178+610T>G c.117+638T>G (n.117+638T>G) c.-89+610T>G (n.-89+610T>G) c.-385+610T>G (n.-385+610T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931433_931435del | CA549162192 | GAK | c.145+608_145+610del (n.145+608_145+610del) n.178+608_178+610del c.117+636_117+638del (n.117+636_117+638del) c.-89+608_-89+610del (n.-89+608_-89+610del) c.-385+608_-385+610del (n.-385+608_-385+610del) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931433_931438del | CA1058439457 | GAK | c.145+605_145+610del (n.145+605_145+610del) n.178+605_178+610del c.117+633_117+638del (n.117+633_117+638del) c.-89+605_-89+610del (n.-89+605_-89+610del) c.-385+605_-385+610del (n.-385+605_-385+610del) | gnomAD v3 gnomAD v4 |
4 | g.931433_931441del | CA1058439451 | GAK | c.145+602_145+610del (n.145+602_145+610del) n.178+602_178+610del c.117+630_117+638del (n.117+630_117+638del) c.-89+602_-89+610del (n.-89+602_-89+610del) c.-385+602_-385+610del (n.-385+602_-385+610del) | gnomAD v3 gnomAD v4 |
4 | g.931433_931467del | CA1058439448 | GAK | c.145+576_145+610del (n.145+576_145+610del) n.178+576_178+610del c.117+604_117+638del (n.117+604_117+638del) c.-89+576_-89+610del (n.-89+576_-89+610del) c.-385+576_-385+610del (n.-385+576_-385+610del) | gnomAD v3 gnomAD v4 |
4 | g.931433_931503del | CA2558513425 | GAK | c.145+540_145+610del (n.145+540_145+610del) n.178+540_178+610del c.117+568_117+638del (n.117+568_117+638del) c.-89+540_-89+610del (n.-89+540_-89+610del) c.-385+540_-385+610del (n.-385+540_-385+610del) | |
4 | g.931434G>A | CA1058439462 | GAK | c.145+609C>T (n.145+609C>T) n.178+609C>T c.117+637C>T (n.117+637C>T) c.-89+609C>T (n.-89+609C>T) c.-385+609C>T (n.-385+609C>T) | |
4 | g.931434G>C | CA549162194 | GAK | c.145+609C>G (n.145+609C>G) n.178+609C>G c.117+637C>G (n.117+637C>G) c.-89+609C>G (n.-89+609C>G) c.-385+609C>G (n.-385+609C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931434G= | CA1433026985 | GAK | c.145+609C= (n.145+609C=) n.178+609C= c.117+637C= (n.117+637C=) c.-89+609C= (n.-89+609C=) c.-385+609C= (n.-385+609C=) | |
4 | g.931434_931435del | CA2766296962 | GAK | c.145+608_145+609del (n.145+608_145+609del) n.178+608_178+609del c.117+636_117+637del (n.117+636_117+637del) c.-89+608_-89+609del (n.-89+608_-89+609del) c.-385+608_-385+609del (n.-385+608_-385+609del) | |
4 | g.931435G>C | CA549162196 | GAK | c.145+608C>G (n.145+608C>G) n.178+608C>G c.117+636C>G (n.117+636C>G) c.-89+608C>G (n.-89+608C>G) c.-385+608C>G (n.-385+608C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931435G= | CA1433026986 | GAK | c.145+608C= (n.145+608C=) n.178+608C= c.117+636C= (n.117+636C=) c.-89+608C= (n.-89+608C=) c.-385+608C= (n.-385+608C=) | |
4 | g.931437T>C | CA549162198 | GAK | c.145+606A>G (n.145+606A>G) n.178+606A>G c.117+634A>G (n.117+634A>G) c.-89+606A>G (n.-89+606A>G) c.-385+606A>G (n.-385+606A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931437_931438del | CA2760123711 | GAK | c.145+605_145+606del (n.145+605_145+606del) n.178+605_178+606del c.117+633_117+634del (n.117+633_117+634del) c.-89+605_-89+606del (n.-89+605_-89+606del) c.-385+605_-385+606del (n.-385+605_-385+606del) | |
4 | g.931438A= | CA1433026987 | GAK | c.145+605T= (n.145+605T=) n.178+605T= c.117+633T= (n.117+633T=) c.-89+605T= (n.-89+605T=) c.-385+605T= (n.-385+605T=) | |
4 | g.931438A>C | CA549162200 | GAK | c.145+605T>G (n.145+605T>G) n.178+605T>G c.117+633T>G (n.117+633T>G) c.-89+605T>G (n.-89+605T>G) c.-385+605T>G (n.-385+605T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931440A>C | CA549162202 | GAK | c.145+603T>G (n.145+603T>G) n.178+603T>G c.117+631T>G (n.117+631T>G) c.-89+603T>G (n.-89+603T>G) c.-385+603T>G (n.-385+603T>G) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931440A>G | CA2704743501 | GAK | c.145+603T>C (n.145+603T>C) n.178+603T>C c.117+631T>C (n.117+631T>C) c.-89+603T>C (n.-89+603T>C) c.-385+603T>C (n.-385+603T>C) | dbSNP |
4 | g.931440A>T | CA2760123712 | GAK | c.145+603T>A (n.145+603T>A) n.178+603T>A c.117+631T>A (n.117+631T>A) c.-89+603T>A (n.-89+603T>A) c.-385+603T>A (n.-385+603T>A) | |
4 | g.931441A>C | CA1058439470 | GAK | c.145+602T>G (n.145+602T>G) n.178+602T>G c.117+630T>G (n.117+630T>G) c.-89+602T>G (n.-89+602T>G) c.-385+602T>G (n.-385+602T>G) | gnomAD v3 gnomAD v4 |
4 | g.931443C>A | CA1058439474 | GAK | c.145+600G>T (n.145+600G>T) n.178+600G>T c.117+628G>T (n.117+628G>T) c.-89+600G>T (n.-89+600G>T) c.-385+600G>T (n.-385+600G>T) | gnomAD v3 gnomAD v4 |
4 | g.931443C= | CA1433026988 | GAK | c.145+600G= (n.145+600G=) n.178+600G= c.117+628G= (n.117+628G=) c.-89+600G= (n.-89+600G=) c.-385+600G= (n.-385+600G=) | |
4 | g.931443C>G | CA800080328 | GAK | c.145+600G>C (n.145+600G>C) n.178+600G>C c.117+628G>C (n.117+628G>C) c.-89+600G>C (n.-89+600G>C) c.-385+600G>C (n.-385+600G>C) | dbSNP |
4 | g.931443C>T | CA91135439 | GAK | c.145+600G>A (n.145+600G>A) n.178+600G>A c.117+628G>A (n.117+628G>A) c.-89+600G>A (n.-89+600G>A) c.-385+600G>A (n.-385+600G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931444G>A | CA91135441 | GAK | c.145+599C>T (n.145+599C>T) n.178+599C>T c.117+627C>T (n.117+627C>T) c.-89+599C>T (n.-89+599C>T) c.-385+599C>T (n.-385+599C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931444G>C | CA91135443 | GAK | c.145+599C>G (n.145+599C>G) n.178+599C>G c.117+627C>G (n.117+627C>G) c.-89+599C>G (n.-89+599C>G) c.-385+599C>G (n.-385+599C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931444G= | CA1433026989 | GAK | c.145+599C= (n.145+599C=) n.178+599C= c.117+627C= (n.117+627C=) c.-89+599C= (n.-89+599C=) c.-385+599C= (n.-385+599C=) | |
4 | g.931445C>A | CA1058439479 | GAK | c.145+598G>T (n.145+598G>T) n.178+598G>T c.117+626G>T (n.117+626G>T) c.-89+598G>T (n.-89+598G>T) c.-385+598G>T (n.-385+598G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931445C= | CA1433026990 | GAK | c.145+598G= (n.145+598G=) n.178+598G= c.117+626G= (n.117+626G=) c.-89+598G= (n.-89+598G=) c.-385+598G= (n.-385+598G=) | |
4 | g.931448C>A | CA2760123713 | GAK | c.145+595G>T (n.145+595G>T) n.178+595G>T c.117+623G>T (n.117+623G>T) c.-89+595G>T (n.-89+595G>T) c.-385+595G>T (n.-385+595G>T) | |
4 | g.931449T>C | CA2705029329 | GAK | c.145+594A>G (n.145+594A>G) n.178+594A>G c.117+622A>G (n.117+622A>G) c.-89+594A>G (n.-89+594A>G) c.-385+594A>G (n.-385+594A>G) | dbSNP |
4 | g.931450A= | CA1433026991 | GAK | c.145+593T= (n.145+593T=) n.178+593T= c.117+621T= (n.117+621T=) c.-89+593T= (n.-89+593T=) c.-385+593T= (n.-385+593T=) | |
4 | g.931450A>C | CA1433026992 | GAK | c.145+593T>G (n.145+593T>G) n.178+593T>G c.117+621T>G (n.117+621T>G) c.-89+593T>G (n.-89+593T>G) c.-385+593T>G (n.-385+593T>G) | dbSNP |
4 | g.931452C= | CA1433026993 | GAK | c.145+591G= (n.145+591G=) n.178+591G= c.117+619G= (n.117+619G=) c.-89+591G= (n.-89+591G=) c.-385+591G= (n.-385+591G=) | |
4 | g.931452C>G | CA91135445 | GAK | c.145+591G>C (n.145+591G>C) n.178+591G>C c.117+619G>C (n.117+619G>C) c.-89+591G>C (n.-89+591G>C) c.-385+591G>C (n.-385+591G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931452C>T | CA800080332 | GAK | c.145+591G>A (n.145+591G>A) n.178+591G>A c.117+619G>A (n.117+619G>A) c.-89+591G>A (n.-89+591G>A) c.-385+591G>A (n.-385+591G>A) | dbSNP |
4 | g.931453T>C | CA2704791320 | GAK | c.145+590A>G (n.145+590A>G) n.178+590A>G c.117+618A>G (n.117+618A>G) c.-89+590A>G (n.-89+590A>G) c.-385+590A>G (n.-385+590A>G) | dbSNP |
4 | g.931453T>G | CA1058439483 | GAK | c.145+590A>C (n.145+590A>C) n.178+590A>C c.117+618A>C (n.117+618A>C) c.-89+590A>C (n.-89+590A>C) c.-385+590A>C (n.-385+590A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931453T= | CA1433026994 | GAK | c.145+590A= (n.145+590A=) n.178+590A= c.117+618A= (n.117+618A=) c.-89+590A= (n.-89+590A=) c.-385+590A= (n.-385+590A=) | |
4 | g.931454G>C | CA91135446 | GAK | c.145+589C>G (n.145+589C>G) n.178+589C>G c.117+617C>G (n.117+617C>G) c.-89+589C>G (n.-89+589C>G) c.-385+589C>G (n.-385+589C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931454G= | CA1433026995 | GAK | c.145+589C= (n.145+589C=) n.178+589C= c.117+617C= (n.117+617C=) c.-89+589C= (n.-89+589C=) c.-385+589C= (n.-385+589C=) | |
4 | g.931457A= | CA1433026996 | GAK | c.145+586T= (n.145+586T=) n.178+586T= c.117+614T= (n.117+614T=) c.-89+586T= (n.-89+586T=) c.-385+586T= (n.-385+586T=) | |
4 | g.931457A>G | CA549162238 | GAK | c.145+586T>C (n.145+586T>C) n.178+586T>C c.117+614T>C (n.117+614T>C) c.-89+586T>C (n.-89+586T>C) c.-385+586T>C (n.-385+586T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931458C= | CA1433026997 | GAK | c.145+585G= (n.145+585G=) n.178+585G= c.117+613G= (n.117+613G=) c.-89+585G= (n.-89+585G=) c.-385+585G= (n.-385+585G=) | |
4 | g.931458C>T | CA1058439486 | GAK | c.145+585G>A (n.145+585G>A) n.178+585G>A c.117+613G>A (n.117+613G>A) c.-89+585G>A (n.-89+585G>A) c.-385+585G>A (n.-385+585G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931459A>G | CA2760123714 | GAK | c.145+584T>C (n.145+584T>C) n.178+584T>C c.117+612T>C (n.117+612T>C) c.-89+584T>C (n.-89+584T>C) c.-385+584T>C (n.-385+584T>C) | |
4 | g.931460C= | CA1433026998 | GAK | c.145+583G= (n.145+583G=) n.178+583G= c.117+611G= (n.117+611G=) c.-89+583G= (n.-89+583G=) c.-385+583G= (n.-385+583G=) | |
4 | g.931460C>G | CA91135447 | GAK | c.145+583G>C (n.145+583G>C) n.178+583G>C c.117+611G>C (n.117+611G>C) c.-89+583G>C (n.-89+583G>C) c.-385+583G>C (n.-385+583G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931460C>T | CA800080344 | GAK | c.145+583G>A (n.145+583G>A) n.178+583G>A c.117+611G>A (n.117+611G>A) c.-89+583G>A (n.-89+583G>A) c.-385+583G>A (n.-385+583G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931461G>A | CA800080346 | GAK | c.145+582C>T (n.145+582C>T) n.178+582C>T c.117+610C>T (n.117+610C>T) c.-89+582C>T (n.-89+582C>T) c.-385+582C>T (n.-385+582C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931461G= | CA1433026999 | GAK | c.145+582C= (n.145+582C=) n.178+582C= c.117+610C= (n.117+610C=) c.-89+582C= (n.-89+582C=) c.-385+582C= (n.-385+582C=) | |
4 | g.931463G>A | CA549162240 | GAK | c.145+580C>T (n.145+580C>T) n.178+580C>T c.117+608C>T (n.117+608C>T) c.-89+580C>T (n.-89+580C>T) c.-385+580C>T (n.-385+580C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931463G= | CA1433027000 | GAK | c.145+580C= (n.145+580C=) n.178+580C= c.117+608C= (n.117+608C=) c.-89+580C= (n.-89+580C=) c.-385+580C= (n.-385+580C=) | |
4 | g.931464T>G | CA1433027002 | GAK | c.145+579A>C (n.145+579A>C) n.178+579A>C c.117+607A>C (n.117+607A>C) c.-89+579A>C (n.-89+579A>C) c.-385+579A>C (n.-385+579A>C) | dbSNP |
4 | g.931464T= | CA1433027001 | GAK | c.145+579A= (n.145+579A=) n.178+579A= c.117+607A= (n.117+607A=) c.-89+579A= (n.-89+579A=) c.-385+579A= (n.-385+579A=) | |
4 | g.931464dup | CA91135456 | GAK | c.145+579dup (n.145+579dup) n.178+579dup c.117+607dup (n.117+607dup) c.-89+579dup (n.-89+579dup) c.-385+579dup (n.-385+579dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931468C= | CA1433027005 | GAK | c.145+575G= (n.145+575G=) n.178+575G= c.117+603G= (n.117+603G=) c.-89+575G= (n.-89+575G=) c.-385+575G= (n.-385+575G=) | |
4 | g.931468C>T | CA1433027004 | GAK | c.145+575G>A (n.145+575G>A) n.178+575G>A c.117+603G>A (n.117+603G>A) c.-89+575G>A (n.-89+575G>A) c.-385+575G>A (n.-385+575G>A) | dbSNP |
4 | g.931468_931471delinsCCCA | CA1433027003 | GAK | c.145+572_145+575delinsTGGG (n.145+572_145+575delinsTGGG) n.178+572_178+575delinsTGGG c.117+600_117+603delinsTGGG (n.117+600_117+603delinsTGGG) c.-89+572_-89+575delinsTGGG (n.-89+572_-89+575delinsTGGG) c.-385+572_-385+575delinsTGGG (n.-385+572_-385+575delinsTGGG) | |
4 | g.931469C>A | CA1058439494 | GAK | c.145+574G>T (n.145+574G>T) n.178+574G>T c.117+602G>T (n.117+602G>T) c.-89+574G>T (n.-89+574G>T) c.-385+574G>T (n.-385+574G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931469C= | CA1433027007 | GAK | c.145+574G= (n.145+574G=) n.178+574G= c.117+602G= (n.117+602G=) c.-89+574G= (n.-89+574G=) c.-385+574G= (n.-385+574G=) | |
4 | g.931472_931474del | CA1433027006 | GAK | c.145+572_145+574del (n.145+572_145+574del) n.178+572_178+574del c.117+600_117+602del (n.117+600_117+602del) c.-89+572_-89+574del (n.-89+572_-89+574del) c.-385+572_-385+574del (n.-385+572_-385+574del) | dbSNP gnomAD v3 |
4 | g.931470C= | CA1433027008 | GAK | c.145+573G= (n.145+573G=) n.178+573G= c.117+601G= (n.117+601G=) c.-89+573G= (n.-89+573G=) c.-385+573G= (n.-385+573G=) | |
4 | g.931470C>G | CA1433027009 | GAK | c.145+573G>C (n.145+573G>C) n.178+573G>C c.117+601G>C (n.117+601G>C) c.-89+573G>C (n.-89+573G>C) c.-385+573G>C (n.-385+573G>C) | dbSNP |
4 | g.931471_931507del | CA1058439496 | GAK | c.145+536_145+572del (n.145+536_145+572del) n.178+536_178+572del c.117+564_117+600del (n.117+564_117+600del) c.-89+536_-89+572del (n.-89+536_-89+572del) c.-385+536_-385+572del (n.-385+536_-385+572del) | gnomAD v3 gnomAD v4 |
4 | g.931472C= | CA1433027010 | GAK | c.145+571G= (n.145+571G=) n.178+571G= c.117+599G= (n.117+599G=) c.-89+571G= (n.-89+571G=) c.-385+571G= (n.-385+571G=) | |
4 | g.931472C>T | CA549162241 | GAK | c.145+571G>A (n.145+571G>A) n.178+571G>A c.117+599G>A (n.117+599G>A) c.-89+571G>A (n.-89+571G>A) c.-385+571G>A (n.-385+571G>A) | dbSNP gnomAD v2 |
4 | g.931475A= | CA1433027011 | GAK | c.145+568T= (n.145+568T=) n.178+568T= c.117+596T= (n.117+596T=) c.-89+568T= (n.-89+568T=) c.-385+568T= (n.-385+568T=) | |
4 | g.931475A>G | CA1433027012 | GAK | c.145+568T>C (n.145+568T>C) n.178+568T>C c.117+596T>C (n.117+596T>C) c.-89+568T>C (n.-89+568T>C) c.-385+568T>C (n.-385+568T>C) | dbSNP |
4 | g.931476C= | CA1433027013 | GAK | c.145+567G= (n.145+567G=) n.178+567G= c.117+595G= (n.117+595G=) c.-89+567G= (n.-89+567G=) c.-385+567G= (n.-385+567G=) | |
4 | g.931476C>T | CA1058439501 | GAK | c.145+567G>A (n.145+567G>A) n.178+567G>A c.117+595G>A (n.117+595G>A) c.-89+567G>A (n.-89+567G>A) c.-385+567G>A (n.-385+567G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931478C>A | CA2506112755 | GAK | c.145+565G>T (n.145+565G>T) n.178+565G>T c.117+593G>T (n.117+593G>T) c.-89+565G>T (n.-89+565G>T) c.-385+565G>T (n.-385+565G>T) | |
4 | g.931479T>G | CA1433027015 | GAK | c.145+564A>C (n.145+564A>C) n.178+564A>C c.117+592A>C (n.117+592A>C) c.-89+564A>C (n.-89+564A>C) c.-385+564A>C (n.-385+564A>C) | dbSNP |
4 | g.931479T= | CA1433027014 | GAK | c.145+564A= (n.145+564A=) n.178+564A= c.117+592A= (n.117+592A=) c.-89+564A= (n.-89+564A=) c.-385+564A= (n.-385+564A=) | |
4 | g.931483G>A | CA1433027017 | GAK | c.145+560C>T (n.145+560C>T) n.178+560C>T c.117+588C>T (n.117+588C>T) c.-89+560C>T (n.-89+560C>T) c.-385+560C>T (n.-385+560C>T) | dbSNP |
4 | g.931483G>C | CA1433027018 | GAK | c.145+560C>G (n.145+560C>G) n.178+560C>G c.117+588C>G (n.117+588C>G) c.-89+560C>G (n.-89+560C>G) c.-385+560C>G (n.-385+560C>G) | dbSNP |
4 | g.931483G= | CA1433027016 | GAK | c.145+560C= (n.145+560C=) n.178+560C= c.117+588C= (n.117+588C=) c.-89+560C= (n.-89+560C=) c.-385+560C= (n.-385+560C=) | |
4 | g.931486C= | CA1433027019 | GAK | c.145+557G= (n.145+557G=) n.178+557G= c.117+585G= (n.117+585G=) c.-89+557G= (n.-89+557G=) c.-385+557G= (n.-385+557G=) | |
4 | g.931486C>T | CA800080351 | GAK | c.145+557G>A (n.145+557G>A) n.178+557G>A c.117+585G>A (n.117+585G>A) c.-89+557G>A (n.-89+557G>A) c.-385+557G>A (n.-385+557G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931487C>A | CA2760123715 | GAK | c.145+556G>T (n.145+556G>T) n.178+556G>T c.117+584G>T (n.117+584G>T) c.-89+556G>T (n.-89+556G>T) c.-385+556G>T (n.-385+556G>T) | |
4 | g.931487C= | CA1433027020 | GAK | c.145+556G= (n.145+556G=) n.178+556G= c.117+584G= (n.117+584G=) c.-89+556G= (n.-89+556G=) c.-385+556G= (n.-385+556G=) | |
4 | g.931487C>T | CA1058439518 | GAK | c.145+556G>A (n.145+556G>A) n.178+556G>A c.117+584G>A (n.117+584G>A) c.-89+556G>A (n.-89+556G>A) c.-385+556G>A (n.-385+556G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931489T>C | CA800080353 | GAK | c.145+554A>G (n.145+554A>G) n.178+554A>G c.117+582A>G (n.117+582A>G) c.-89+554A>G (n.-89+554A>G) c.-385+554A>G (n.-385+554A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.931489T= | CA1433027021 | GAK | c.145+554A= (n.145+554A=) n.178+554A= c.117+582A= (n.117+582A=) c.-89+554A= (n.-89+554A=) c.-385+554A= (n.-385+554A=) | |
4 | g.931490G>T | CA2760123716 | GAK | c.145+553C>A (n.145+553C>A) n.178+553C>A c.117+581C>A (n.117+581C>A) c.-89+553C>A (n.-89+553C>A) c.-385+553C>A (n.-385+553C>A) | |
4 | g.931492A>T | CA2544353323 | GAK | c.145+551T>A (n.145+551T>A) n.178+551T>A c.117+579T>A (n.117+579T>A) c.-89+551T>A (n.-89+551T>A) c.-385+551T>A (n.-385+551T>A) | |
4 | g.931494T>G | CA1433027023 | GAK | c.145+549A>C (n.145+549A>C) n.178+549A>C c.117+577A>C (n.117+577A>C) c.-89+549A>C (n.-89+549A>C) c.-385+549A>C (n.-385+549A>C) | dbSNP |
4 | g.931494T= | CA1433027022 | GAK | c.145+549A= (n.145+549A=) n.178+549A= c.117+577A= (n.117+577A=) c.-89+549A= (n.-89+549A=) c.-385+549A= (n.-385+549A=) | |
4 | g.931495G>A | CA11887114 | GAK | c.145+548C>T (n.145+548C>T) n.178+548C>T c.117+576C>T (n.117+576C>T) c.-89+548C>T (n.-89+548C>T) c.-385+548C>T (n.-385+548C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.931495G= | CA1433027024 | GAK | c.145+548C= (n.145+548C=) n.178+548C= c.117+576C= (n.117+576C=) c.-89+548C= (n.-89+548C=) c.-385+548C= (n.-385+548C=) | |
4 | g.931496T>C | CA91135460 | GAK | c.145+547A>G (n.145+547A>G) n.178+547A>G c.117+575A>G (n.117+575A>G) c.-89+547A>G (n.-89+547A>G) c.-385+547A>G (n.-385+547A>G) | dbSNP |
4 | g.931496T= | CA1433027025 | GAK | c.145+547A= (n.145+547A=) n.178+547A= c.117+575A= (n.117+575A=) c.-89+547A= (n.-89+547A=) c.-385+547A= (n.-385+547A=) | |
4 | g.931498G>A | CA1433027027 | GAK | c.145+545C>T (n.145+545C>T) n.178+545C>T c.117+573C>T (n.117+573C>T) c.-89+545C>T (n.-89+545C>T) c.-385+545C>T (n.-385+545C>T) | dbSNP |
4 | g.931498G= | CA1433027026 | GAK | c.145+545C= (n.145+545C=) n.178+545C= c.117+573C= (n.117+573C=) c.-89+545C= (n.-89+545C=) c.-385+545C= (n.-385+545C=) | |
4 | g.931498G>T | CA648242798 | GAK | c.145+545C>A (n.145+545C>A) n.178+545C>A c.117+573C>A (n.117+573C>A) c.-89+545C>A (n.-89+545C>A) c.-385+545C>A (n.-385+545C>A) | COSMIC |